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1 ure termination, tandem repeat, nonstop, and missense mutations).
2 ly a gain of function caused by the dominant missense mutation.
3 120 of human p53 has been characterized as a missense mutation.
4 ARE harboring a retinal dystrophy-associated missense mutation.
5 ygous c.206A-->T transition, causing an E69V missense mutation.
6 or the pathogenicity of the newly identified missense mutation.
7  leukemia cell lines of the most common TP53 missense mutations.
8 th null alleles frequently found in trans to missense mutations.
9  leukemia showed no evidence of GOF for TP53 missense mutations.
10 s H3K36me2 that is abrogated by TBRS-derived missense mutations.
11  recurrent mutation, and eight non-recurrent missense mutations.
12  is the interrogation of naturally occurring missense mutations.
13 rs (NDDs) and highlight 35 genes with excess missense mutations.
14 cers, and the majority of TP53 mutations are missense mutations.
15 ive of the tumor types evaluated having DLC1 missense mutations.
16  mutations are more impaired than those with missense mutations.
17                  The aberrations included 10 missense mutations, 1 deletion, and 3 splice-site CD37 m
18                            The majority were missense mutations (78%) that mostly affected the WD40 s
19 d that mice expressing a DS-associated Scn1a missense mutation (A1783V) conditionally in inhibitory n
20                Collectively, these recurrent missense mutations affect approximately 0.8% of unrelate
21           In this study, we demonstrate that missense mutations affecting arginine at position 402 (R
22                                   Neomorphic missense mutations affecting crucial lysine residues in
23   Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a
24                    Strikingly, however, this missense mutation affects B cell development but not thy
25 d, resulting in homozygous expression of the missense mutation allele.
26               We tested the SMA patient SMN1 missense mutation alleles A2G, D44V, A111G, E134K and T2
27                Herein, we investigated D477G missense mutation, an unprecedented dominant-acting muta
28 hich provides a mechanistic link between the missense mutation and tumorigenesis.
29 d A11 proteins as examples to illustrate how missense mutations and aberrant post-translational modif
30 isruptive CNVs and SNVs, resulting in severe missense mutations and mapping to predicted fetal brain
31  length of the acidic stretch, including the missense mutations and posttranslationally modified site
32 t reflects a gene's tolerance to deleterious missense mutations and serves as a useful tool to study
33 des a constrained spatial orientation of the missense mutations and the posttranslationally modified
34 is for malfunction of disease-associated XPA missense mutations, and contribute to understanding of t
35                              We identified a missense mutation (ANGPT1, c.807G>T, p.A119S) in a famil
36                                              Missense mutations are associated with milder neurologic
37                                     Multiple missense mutations are required to block CIF2 binding in
38 haping its mutational spectrum, dominated by missense mutations, are enigmatic, and neomorphic gain-o
39 0% of the patient population with identified missense mutations, are located in the interface between
40 an familial hemiplegic migraine type 1 R192Q missense mutation as well as in wild-type mice and rats.
41 lopment of therapeutic strategies that treat missense mutations associated with genetic disorders by
42 gion is intensified by the presence of human missense mutations associated with low and high LDL-c le
43 ic gliomas and bone tumors reportedly harbor missense mutations at glycine 34 in genes encoding histo
44                                              Missense mutations at the KRT16 locus can cause pachyony
45 ost cancer-associated alterations to ATM are missense mutations at the PI3-kinase regulatory domain (
46 f this mutant (ERalpha-Q375H) and four other missense mutations at this position designed to query al
47 we analyzed survival effects of tumor exonic missense mutation burden (TEMMB) across 6947 specimens s
48 on of the PA phenotype with the heterozygous missense mutation c.4136G>T (p.Arg1379Leu) in cadherin-r
49 ifestations, knock-in mice with human HD-AIP missense mutations c.500G>A (p.Arg167Glu) or c.518_519GC
50  syndrome (86%) are caused by a heterozygous missense mutation (c.148G>A, p.D50N) in the GJB2 gene, e
51       The second individual had a homozygous missense mutation (c.1929C>A [p.His643Gln]) and presente
52 etric erythrokeratodermia, we identified two missense mutations (c.3099C>G and c.3119T>C) that produc
53 01C>T/p.(Arg601*), c.2350A>T/p.(Arg784*)], a missense mutation [c.1265G>T/p.(Gly422Val)], and a 62,13
54 dentified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with m
55                               A heterozygous missense mutation, c.2185G->A (p.G729R), in DHTKD1 has b
56       Most studies have focused on how tumor missense mutations can drive tumor immunity, but framesh
57 GA (The Cancer Genome Atlas) PanCancer Atlas missense mutation catalog.
58 iable depending on the interplay between the missense mutation caused by the read-through and the str
59 d-type and mutant SLC13A3 indicated that the missense mutations caused a marked reduction in the capa
60 a beta-trefoil fold, which is susceptive for missense mutations causing alpha-dystroglycanopathies in
61                Almost all G6PD mutations are missense mutations, causing amino acid replacements that
62                                         Some missense mutations changed essential residues conserved
63  siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located i
64               We showed that MCHS-associated missense mutations cluster in the conserved DNA binding
65  We explore the conformational impact of GBM missense mutations, combining elastic network models (EN
66       A simple in silico evaluation of novel missense mutations could help predict the often-diverse
67           Here we show that the heterozygous missense mutations D324N, D324H and D324Y prevent caspas
68                                     A single missense mutation, D620N, is considered pathogenic based
69 cue bioenergetic defects caused by complex I missense mutations derived from mitochondrial disease pa
70 with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardi
71 ent studies have suggested that conservative missense mutations distal to the OGT catalytic domain le
72                                              Missense mutations distributed throughout NMDAR subunits
73 PP provides unique mechanistic insights into missense mutation dysfunction and connection of genotype
74                             Especially, as a missense mutation E102Q in S1R has been reported in few
75 cs-deficient mice or patients carrying PRKDC missense mutations exhibit an inflammatory gene expressi
76                        There are several SMN missense mutations found in humans.
77               Evaluation of many of the TBK1 missense mutations found in patients with ALS or FTD is
78 ons predicted to result in loss of function; missense mutations frequently targeted the GTPase and ki
79                     We compiled a dataset of missense mutations from 58 genes with experimentally val
80                             Moreover, ALOX12 missense mutations from human cancers abrogate its abili
81  sequences, the observation of OPCML somatic missense mutations from various tumor types and the impa
82    In the more severe type-2 form (TS2), the missense mutation G406R is on exon 8 coding for the IS6-
83          We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Ar
84                                  Mice with a missense mutation (H268Q) in Jag1 (Jag1(+/Ndr) mice) wer
85 vere multi-system disorder whereas recessive missense mutations had been previously associated with i
86              Cells transfected with the MYH3 missense mutations had reduced TGFbeta signaling, reveal
87 2,056 species of fish revealed that the same missense mutation has occurred independently and been se
88 y a hypertensive phenotype, and several RGS2 missense mutations have been found predominantly in hype
89 mutational profile is unusual; ~50 different missense mutations have been identified but no obvious l
90                                      Two ICF missense mutations have been identified in the ZBTB24 ZF
91  the RSV polymerase gene and the stabilizing missense mutation I1314L.
92  a codon deletion mutation (Delta1313) and a missense mutation (I1314L) in the L polymerase.
93 ity in WT FAH and a representative set of 19 missense mutations identified in individuals with HT1.
94  evaluate the impact of four disease-causing missense mutations identified in individuals with TMEM16
95 L13B is a ciliary GTPase with at least three missense mutations identified in JS patients.
96 tion for the majority of tau variants due to missense mutations, implying that MT-targeting therapies
97     The 2 patients shared a homozygous G109S missense mutation in 4-1BB that abolished protein expres
98        Here, we identified a neurexin-3alpha missense mutation in a compound heterozygous patient dia
99                                            A missense mutation in a highly conserved residue in the R
100 ion of a third case with a possibly damaging missense mutation in ATP1A3 and three others cases with
101 ngs with IMD identified a novel heterozygous missense mutation in BPIFA1/SPLUNC1.
102          The serum of a patient with a V262F missense mutation in Eda, which caused a milder form of
103 t1/3 low seed-set phenotype, we identified a missense mutation in exo70a2, a predicted member of the
104 ingle strand DNA relative to H1047R (A3140G) missense mutation in exon 20 in breast cancer as the mod
105                                            A missense mutation in FOLH1 (rs202676 G allele) was assoc
106                                     A single missense mutation in hilD, that encodes the master-regul
107            We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5.
108  (rs12129938 in PCNXL2), 3q26.2 (rs6793295 a missense mutation in LRCC34 near TERC), 5q22.1 (rs732274
109 tion in the Ngf gene, resulting in the R100W missense mutation in mature NGF.
110      Here, we report an OGT catalytic domain missense mutation in monozygotic female twins (c. X:7077
111  with at least one truncation or deleterious missense mutation in more than 90% of the captured wheat
112 f affected individuals revealed a homozygous missense mutation in PAICS (c.158A>G; p.Lys53Arg) that a
113 dings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the
114                 We identified a heterozygous missense mutation in PYGM segregating with the disease i
115                          Here we show that a missense mutation in rhodopsin (Phe261Tyr) is an adaptat
116                We identified a novel de novo missense mutation in SEC61A1 (c.A275G;p.Q92R) in a patie
117 ation sequencing (NGS) analysis identified a missense mutation in SETD2 (p.T1171K), and we demonstrat
118         Previously, we identified a c.95 C>A missense mutation in sugarlethal (sgll)-the Drosophila h
119 ickle cell disease results from a homozygous missense mutation in the beta-globin gene that causes po
120 hole-exome sequencing, we identified a novel missense mutation in the binding domain of the STAT3 pro
121 etic sequencing confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a co
122 ntified a unique patient with a heterozygous missense mutation in the coiled-coil domain of STAT5B th
123  exome sequencing analysis identified a rare missense mutation in the gene encoding pancreas-specific
124                                 A homozygous missense mutation in the gene encoding the estrogen rece
125             We recently reported that a rare missense mutation in the gene for the transcriptional re
126                 Notably, we find a recurrent missense mutation in the kinase domain of the ALPK1 gene
127 st coding variant in schizophrenia GWAS is a missense mutation in the manganese transporter SLC39A8,
128 g a hypomorphic mutation in one allele and a missense mutation in the other are the most severely aff
129 d focused next-generation sequencing found a missense mutation in the Phosphatidylinositol-4,5-Bispho
130  modeled in Pstpip2(cmo) mice, which carry a missense mutation in the proline-serine-threonine phosph
131                   Here, we demonstrate how a missense mutation in the second zinc finger of Kruppel-l
132 ll revealing that all six patients harbour a missense mutation in the subdomain of TLDc between resid
133                                     A Vangl2 missense mutation in the Vangl2(Lp/Lp) tissue leads to m
134                             We expect that a missense mutation in this critical overlap region associ
135 ia coli laboratory strains (CS109) harbors a missense mutation in uppS, which encodes an enzymaticall
136 utations in 58 patients from 31 families and missense mutations in 19 patients from 14 families.
137 s of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding
138  the five suppressor mutants had independent missense mutations in a putative transcriptional regulat
139                                     Distinct missense mutations in a specific gene have been associat
140  to investigate the proteome-wide effects of missense mutations in an application that we refer to as
141 s in four of these five tumor types harbored missense mutations in at least one of the 10 Rho-GAPs.
142                                              Missense mutations in ATP1A3, the alpha3 isoform of Na,K
143 iopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode
144 ominant macular dystrophy caused by over 200 missense mutations in BEST1.
145                            Other spontaneous missense mutations in bfmS, such as A42E/G347D, T242R, a
146 pathogen, have naturally evolved one or more missense mutations in bfmS, which encodes the sensor his
147         Here, we show that cancer-associated missense mutations in BRG1, when placed into the ortholo
148                                              Missense mutations in cancers in the p53 DNA-binding and
149                                      Several missense mutations in CD40L that induce immunodeficiency
150                             We conclude that missense mutations in CDK8 cause a developmental disorde
151 We observed familial segregation of two rare missense mutations in Chondroitin Sulfate Proteoglycan 4
152 B1, SRSF2, and U2AF1 are subject to frequent missense mutations in clonal hematopoiesis and diverse n
153                                 Heterozygous missense mutations in coatomer protein subunit alpha, CO
154 ts shed new light on the mechanisms by which missense mutations in DNA-binding domains of transcripti
155                       Here we report de novo missense mutations in DNMT3A, which encodes the DNA meth
156                  Only a few cases of de novo missense mutations in EHMT1 giving rise to KS have been
157  value of deep biological analysis of select missense mutations in elucidating the pathogenesis of ne
158 europathies are linked to heterozygosity for missense mutations in five ARS genes, which points to a
159          Three different heterozygous ASPRV1 missense mutations in four unrelated ichthyosis kindreds
160 ntified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R213P) predic
161  S. aureus infections, where it develops via missense mutations in gene rpoB.
162 en that there are 255 unique disease-causing missense mutations in GLDC, of which 206 remain entirely
163                            Cancer-associated missense mutations in human BRG1 (encoding the catalytic
164                                   Pathogenic missense mutations in human LAMB2 cluster in or near the
165                                     Dominant missense mutations in INF2 are linked to two diseases: f
166                                      De novo missense mutations in KCNH1 and KCNK4, encoding K(+) cha
167 r utility for precise somatic engineering of missense mutations in key cancer drivers.
168                             HCM is caused by missense mutations in muscle proteins including myosin,
169                                    Two novel missense mutations in MYBPC1 (p.E248K in family 1 and p.
170                      Here, we link two novel missense mutations in MYBPC1 with a dominant, mild skele
171 NE is the primary unit of selection for TP53 missense mutations in myeloid malignancies.
172                                         Rare missense mutations in MYH9 cause macrothrombocytopenia a
173                             Gain-of-function missense mutations in NLRP3 result in a group of autoinf
174 ts suggest that clinically occurring somatic missense mutations in OPCML have the potential to contri
175                    All three CCCA-associated missense mutations in PADI3 affect highly conserved resi
176 ified one splice site and three heterozygous missense mutations in PADI3 in 5 patients (31%).
177      We identified the properties of de novo missense mutations in patients with neurodevelopmental d
178 portance correlating strongly to the rate of missense mutations in patients.
179  knock-in mouse bearing one of the same Copa missense mutations in patients.
180  to the loss of protein expression; however, missense mutations in PBRM1 have been identified and ten
181                         Somatic heterozygous missense mutations in PPP2R1A, the gene encoding the PP2
182 r patients showed a heterozygous deletion or missense mutations in PPP2R4 Cancer-associated PTPA muta
183 ere two mouse models carrying two pathogenic missense mutations in Secisbp2 previously identified in
184             Here, we identified heterozygous missense mutations in single-strand binding protein 1 (S
185                              SPG8-associated missense mutations in strumpellin did not rescue endosom
186                                 Heterozygous missense mutations in syt1 have recently been associated
187           By exome sequencing, we identified missense mutations in TBC1D8B in two families with an X-
188                              At least 42% of missense mutations in TEM-1 were deleterious, indicating
189 cess of COPII-mediated vesicle transport and missense mutations in TFG cause several neurodegenerativ
190 ongenital skeletal muscle disorder caused by missense mutations in the beta-cardiac/slow skeletal mus
191 ilon domains by introducing chromosomal atpC missense mutations in the C-terminal helix 2 of epsilon
192 ibed Mendelian autoimmune disorder caused by missense mutations in the coatomer protein complex subun
193      The condition is driven by nonsense and missense mutations in the dystrophin gene, leading to in
194 y measured the collateral fitness effects of missense mutations in the Escherichia coli TEM-1 beta-la
195 tral valve insufficiency, and four different missense mutations in the filamin A gene (FLNA) have bee
196                     Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have be
197 g revealed in 4 patients 2 rare heterozygous missense mutations in the gene encoding CARD14, a major
198                  Here we report heterozygous missense mutations in the gene encoding the MA ion chann
199                     We identified hemizygous missense mutations in the gene TBC1D8B in five families
200                                              Missense mutations in the gene, MAP3K1, are a common cau
201 liopathy caused by dominant gain-of-function missense mutations in the glial fibrillary acidic protei
202                              (2020) show how missense mutations in the kinase domain of TBK1 differen
203 METDelta14-driven NSCLC, only to observe new missense mutations in the MET activation loop, critical
204 ic analyses of myosins carrying one of seven missense mutations in the motor domain.
205 e also report the identification of 2 unique missense mutations in the NME proteins in patients with
206                                      Several missense mutations in the orphan transporter FLVCR2 have
207                                              Missense mutations in the p53 DNA-binding domain (DBD) c
208 ain and a large number of patient-associated missense mutations in the RING domain and N-terminal reg
209                            Cancer-associated missense mutations in the RING ubiquitin ligase domain a
210                                              Missense mutations in the RNA exosome component exosome
211                                 Here de novo missense mutations in the RPS23 gene, which codes for uS
212                                              Missense mutations in the tau gene (MAPT) correlate with
213                                A spectrum of missense mutations in the tau-encoding gene microtubule-
214 isorder of transcriptional regulation due to missense mutations in the X chromosome gene, NKAP.
215 CD) of hnRNPA2 fibrillizes under stress, and missense mutations in this domain are found in the disea
216                                              Missense mutations in this motif abolished SAUR binding
217                  Arabidopsis lines harboring missense mutations in this N-terminus produce wild-type
218                                Specifically, missense mutations in TP53 can contribute to tumorigenes
219  impacts of temperature sensitivity-inducing missense mutations in two different subunits of the 26S
220 tform for recapitulating clinically relevant missense mutations in vivo.
221                      They were found to have missense mutations in VPS4A, a gene coding for an ATPase
222 ng the initial case, with three heterozygous missense mutations in WFS1 (4/5 confirmed de novo).
223 ne splicing analyses revealed that the AMELX missense mutation increased exonic definition of exon 4
224                     Duplication of LMNB1, or missense mutations increasing LMNB1 expression, are asso
225  modulators of myosin, and pathogenic myosin missense mutations influenced the proportions of these c
226 duction of two different ChAc disease-linked missense mutations into VPS13A prevents this XK-induced
227 though the mechanism of action of pathogenic missense mutations is currently unclear.
228                                              Missense mutations K15N and R21H in striated muscle trop
229  the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding
230 range of molecular mechanisms by which FVIII missense mutations lead to moderate to severe hemophilia
231     We identified 3 human neurodevelopmental missense mutations located in the neurospecific domain o
232                            Recently, a novel missense mutation Met48Lys in FKBP22 was identified in a
233 e have isolated a mouse strain with a single missense mutation, Mlkl(D139V), that alters the two-heli
234 lp to analyze the complex relationship among missense mutations, multidomain protein stability, and d
235 1), gene amplifications (n = 35), genes with missense mutations (n = 30), and genes that contain dele
236 report that the human infertility-associated missense mutation (N64I) in MEIOB causes protein degrada
237        Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific mod
238                                              Missense mutations of PRKDC encoding the DNA-dependent p
239 nation for the autoimmunity of patients with missense mutations of PRKDC, and suggests that cGAS-medi
240                Here, we describe hypomorphic missense mutations of scospondin, which allow Reissner f
241                                      Somatic missense mutations of the CSNK1A1 gene encoding casein k
242               Our study characterized that a missense mutation on phenylalanine residue located in CR
243 aches to investigate the impact of the P179R missense mutation on PP2A function.
244 urons, we analyzed the effects of 67 tubulin missense mutations on neurite growth.
245 ed to more accurately predict the effects of missense mutations on protein-protein interaction bindin
246   A key question is whether the heterozygous missense mutations operate through haploinsufficiency or
247 ino acid variants (SAVs; also referred to as missense mutations, or non-synonymous Single Nucleotide
248 ation, and the third carried T182M and G511R missense mutations, overall revealing that all six patie
249 ort a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhibited global
250              We created a mouse model with a missense mutation p.Ser6366Ile and a deletion of NEB exo
251                      We identified the novel missense mutations p.S148F, p.R114Q and p.L177W in the B
252                                 A homozygous missense mutation (p.Ala254Asp) was found in the first p
253  second patient was heterozygous for another missense mutation (p.Gly548Ser) and an intronic mutation
254                           We identified rare missense mutations (p.Pro191Leu/rs143150225 and p.Ala252
255                         Here, we show that a missense mutation, p.Arg918Gln (c.2753G > A), of NLRP3 c
256 iking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe
257                                 Severe DDX3X missense mutations profoundly disrupt RNA helicase activ
258 -dependent) growth phenotype, different ESR1 missense mutations, prominently observed during estrogen
259  spontaneous mouse mutant shaky, caused by a missense mutation, Q177K, located in the extracellular b
260 died of autoinflammation due to a homozygous missense mutation (R148Q) in STAT2.
261                 Our early studies revealed a missense mutation (R242H) of GRTH in 5.8% of Japanese pa
262                 Our early studies revealed a missense mutation (R242H) of GRTH in azoospermic men tha
263 nctionally characterizes the most common ATM missense mutation R3008H in cancer and identifies a uniq
264 orthologue of the most frequent human desmin missense mutation R350P.
265                         We observed that the missense mutation reduced the abundance of full-length V
266                     However, the majority of missense mutations remain uncharacterized.
267                                          The missense mutation resulted in a loss of function of HilD
268 shift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductanc
269     Modeling and functional analysis of CD37 missense mutations revealed loss of function by impaired
270 he P(o) of these mutations with the proposed missense mutations revealed potential identities of the
271                            To date, a single missense mutation (S163R) in the C1QTNF5 gene, encoding
272                                          The missense mutation severely limits the glycosylation of N
273           Mice that are heterozygous for the missense mutation show no behavioural abnormalities but
274             Functional analysis of the three missense mutations showed impaired formation of the LMNB
275                      Further analysis of the missense mutations showed no apparent effects on mitosis
276                                         TP53 missense mutations significantly influence the developme
277 is identified 412 somatic variants including missense mutations, splice site variants, frameshift ind
278 isolates of emm subtype emm43.4 with a pbp2x missense mutation (T553K) were detected.
279 specificity versions of CURE to create fewer missense mutations than RESCUE-S at the off-targets tran
280 PIK3CA c.3140 A > G (H1047R), a prevalent BC missense mutation that is attributed to BC tumour growth
281  and female mice carrying a homozygous S218L missense mutation that leads to gain-of-function of volt
282 e disorders caused by private, non-recurrent missense mutations that result in varying phenotypes are
283 ation (Ile469_Cys471delinsMetLeu) and 8 TGM1 missense mutations that to our knowledge have not been p
284 vestigated representative disease-associated missense mutations to determine their effects on IP(3)R
285                   Previously we identified a missense mutation (V1727F) in the second laminin globula
286  cancer-associated and functionally relevant missense mutations, we show that although loss of PTEN l
287                                              Missense mutations were associated with milder neurologi
288 s of short indels, splice site, nonsense, or missense mutations were detected in patients with prosta
289                           Disease-associated missense mutations were mapped throughout the protein st
290    An X-chromosome exome screen identified a missense mutation, which encodes an amino acid in the te
291 plicated in membrane recognition and Jagged1 missense mutations, which affect these loops and are ass
292 tients with inactivating, homozygous SMARCA4 missense mutations who may benefit from SMARCA2-targeted
293 ients carrying a premature stop codon versus missense mutations will likely display different molecul
294            Mice homozygous for a hypomorphic missense mutation within the conserved Tubby domain of T
295            We found that a cancer-associated missense mutation within the OTUD5 Ubiquitin Interacting
296 equence homologs that predicts the impact of missense mutations within any protein.
297                                  A subset of missense mutations within TB4 cause stiff skin syndrome
298 plication syndromes, such as recurrent MAPK3 missense mutations within the chromosome 16p11.2 duplica
299  revealed previously uncharacterized hotspot missense mutations within the SMARCA4 helicase domain.
300 ly, we analysed the effect of three clinical missense mutations (Y793C, R800C, Y849C) on catalysis, u

 
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