ライフサイエンスコーパス: frameshift mutation

1 ivating mutations (nonsense, splice-site, or frameshift mutations).

2 he dG(1,8) site, creating a complex for "-2" frameshift mutation.

3 lls required TGFBR2-even the form encoding a frameshift mutation.

4 while the second patient had a c.592_593dup frameshift mutation.

5 2 expression was disrupted by an insertional/frameshift mutation.

6 (a-3, a-4, and a-5) each containing a unique frameshift mutation.

7 tors carried an 8-bp mutS deletion causing a frameshift mutation.

8 his construct undergoes continual subsequent frameshift mutation.

9 s appear to result from gene duplication and frameshift mutation.

10 ) (CD22DeltaE12) and results in a truncating frameshift mutation.

11 lineage, rpmGC is a pseudogene containing a frameshift mutation.

12 ch carries the protein-truncating c.6174delT frameshift mutation.

13 ene of the plasmid used contained a proximal frameshift mutation.

14 lls from schizophrenia patients with a DISC1 frameshift mutation.

15 ds to large numbers of base substitution and frameshift mutations.

16 rrelated positively with the total number of frameshift mutations.

17 lines, consisting of nonsense, missense and frameshift mutations.

18 n, minimizing generation of more deleterious frameshift mutations.

19 re expression of polypeptides in the face of frameshift mutations.

20 tions, which has implications for correcting frameshift mutations.

21 itutions (M(1)dG --> A and M(1)dG --> T) and frameshift mutations.

22 n strand breaks and potentially deletion and frameshift mutations.

23 pair (MMR) can lead to base substitution and frameshift mutations.

24 s (mostly M(1)dG to dT and M(1)dG to dA) and frameshift mutations.

25 ently engineered through CRISPR-Cas9-induced frameshift mutations.

26 which is specifically affected by one of the frameshift mutations.

27 tures present in subjects with DVL1 and DVL3 frameshift mutations.

28 Forty-three mutations, including 8 frameshift mutations, 10 nonsense mutations, 4 splice si

29 Of these, 21 (2 frameshift mutations, 4 nonsense mutations, 4 splice sit

30 tients with CD who were heterozygous for the frameshift mutation (6% of CD cases analyzed) had reduce

31 aza and 4 aza-8-fluoro derivatives increased frameshift mutations about 22- and 4-fold, respectively.

32 e been described to date, with the c.649dupC frameshift mutation accounting for the majority of cases

33 The p.F513SfsX113 frameshift mutation adds 113 amino acids to the C termin

34 and characterization of a novel heterozygous frameshift mutation affecting the carboxy-terminus (439f

35 re, we observed that a known illness-related frameshift mutation after amino acid 807 causes the C re

36 d repair outcome signatures enriched towards frameshift mutations, allowing maximization of CRISPR/Ca

37 patients with GATA2 deletions and one with a frameshift mutation also have primary lymphedema.

38 Glis3 observed in NDH1 patients results in a frameshift mutation and a C-terminal truncated Glis3.

39 ctivates a cryptic splice site, leading to a frameshift mutation and a premature stop codon that rend

40 h genetically undefined CSA and identified a frameshift mutation and a rare promoter variant in HSCB

41 omponent TrkA was originally thought to be a frameshift mutation and not to encode a functional prote

42 meshift mutation, one had exon 4 Q130SfsX130 frameshift mutation and one had exon 10 Q468X stop codon

43 ein regulatory complex member, resulted in a frameshift mutation and PCD.

44 emonstrated a thymine insertion leading to a frameshift mutation and premature truncation of catalase

45 duce exon skipping; the other mutations were frameshift mutations and a deletion.

46 , we identified three independent homozygous frameshift mutations and a homozygous deletion of two ex

47 We identified two homozygous frameshift mutations and a homozygous nonsense mutation

48 rprisingly mistranslated because of numerous frameshift mutations and large indels.

49 ad RNA-seq output to reliably identify small frameshift mutations and missense mutations in highly ex

50 treatment and prevention of tumors harboring frameshift mutations and neoantigenic peptides as a resu

51 We detected two unique frameshift mutations and one duplication in three patien

52 gKaKs can automatically detect and eliminate frameshift mutations and premature stop codons to comput

53 y changes: either a straight morphology from frameshift mutations and single nucleotide polymorphisms

54 tal age on base substitutions, we found that frameshift mutations and transposition events increased

55 A in which functional loss from nonsense and frameshift mutations and/or targeted deletions is observ

56 d resulted in two premature stop codons, one frameshift mutation, and one cysteine to glycine amino a

57 nel implicated in migraine: TRESK-MT, a 2-bp frameshift mutation, and TRESK-C110R.

58 tations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations.

59 ases were characterized by both missense and frameshift mutations, and enzymatic activity of BAP1 mis

60 defects caused by APOBEC-mediated mutations, frameshift mutations, and inactivating point mutations.

61 These included four missense mutations, two frameshift mutations, and one tRNA homopolymer expansion

62 Frameshift mutations are particularly deleterious to pro

63 t the majority of reported LQT2 nonsense and frameshift mutations are potential targets of NMD.

64 set of lacZ strains revealed that genetic -1 frameshift mutations are strongly elevated in Clp-defect

65 the rates of hybridization-induced point and frameshift mutations as well as homologous recombination

66 We found that base substitutions outnumber frameshift mutations, as seen in other experimental syst

67 he mutations include missense, nonsense, and frameshift mutations, as well as splice-site and deletio

68 ith neurodegenerative disease and homozygous frameshift mutations (Asp517Metfs*19, Ser126Metfs*8, and

69 Inactivating frameshift mutations associated with the 7C HT in glpK p

70 nalysis indicates a preexisting heterozygous frameshift mutation at codon 616 (N616fs*) in one of the

71 tary motor neuropathy of a dominant-negative frameshift mutation at the C-terminus of choline transpo

72 rtion of a transposable element as well as a frameshift mutation, both of which are completely absent

73 ility of XMC, we identified the novel CHRDL1 frameshift mutation c.807_808delTC [p.H270Wfs*22] presum

74 -2A>G), whereas the other bears a homozygous frameshift mutation (c.1328_1329insT [p.Tyr444fs*3]) in

75 rphogenetic Protein-4) gene and identified a frameshift mutation (c.226del2, p.S76fs104X) that segreg

76 patient was homozygous for an ablative APOE frameshift mutation (c.291del, p.E97fs).

77 her 32-year-old cousin were homozygous for a frameshift mutation (c.45_46del AG, p.T15Tfsx27) in exon

78 family from New Zealand with a heterozygous frameshift mutation (c.465dupA) in exon 7.

79 ng whole-exome sequencing, we identified two frameshift mutations (c.981_993del [p.Gln327Hisfs( *)102

80 ations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in

81 date gene sequencing identified a homozygous frameshift mutation, c.139_140delAG, in the transmembran

82 osed with CVID and identified a heterozygous frameshift mutation, c.2564delA (p.Lys855Serfs( *)7), in

83 ffected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs( *)6), in

84 a large Israeli family revealed a homozygous frameshift mutation, c.947delA (p.Lys316Serfs( *)90), an

85 We identified a novel ESR2 frameshift mutation, c.948delT, which segregated with hi

86 We also identified two UBAP1 frameshift mutations, c.324_325delCA (p.H108Qfs*10) and

87 We tested the hypothesis that a deletion and frameshift mutation (C563fsX673) in the CEL VNTR causes

88 e with pleiotropic effects in human, in that frameshift mutations cause a severe multi-system disorde

89 A heterozygous frameshift mutation causing a 12-amino acid extension to

90 chromosome at the EYS locus, which carries a frameshift mutation causing blindness.

91 from single amino acid (aa) substitutions to frameshift mutations causing premature stop codons, and

92 Here we report and characterize a +1-nt frameshift mutation, centrally located in rpoB, an essen

93 furazone, and suppressed the frequency of -1 frameshift mutations characteristic of Pol IV, while los

94 This individual carrying the RYR1 frameshifting mutation complained of mild muscle weaknes

95 revealed that 2347 nonsynonymous SNPs and 51 frameshift mutations could differentiate the salt tolera

96 wo reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain cause

97 Model mRNAs carrying frameshift mutations exhibited a YoeB-mediated cleavage

98 -linked families identified three additional frameshift mutations, for a total of four truncating all

99 l cancer patients with peptides derived from frameshift mutations found in their tumors.

100 amming, we used CRISPR-Cas9 to produce a new frameshift mutation, GR(369-), which eliminates all pote

101 a patient with SRNS with a homozygous ADCK4 frameshift mutation had partial remission following CoQ1

102 Several frameshift mutations have been reported in rpoB in rifam

103 ense mutations can drive tumor immunity, but frameshift mutations have the potential to create far gr

104 deletion and one-third exhibit homopolymeric frameshift mutations (HFMs).

105 We report the first intragenic deletion and frameshift mutations identified in RAD21 in two patients

106 ed resequencing study, we identified a CXCR2 frameshift mutation in a pedigree with congenital neutro

107 dy shows that whole-genome duplication and a frameshift mutation in ACE2 are sufficient to generate a

108 A novel homozygous frameshift mutation in ADCK3 (p.Ser616Leufs*114), was id

109 P4S1 (NM_007077.3: c.124C>T, p.Arg42( *)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insT

110 he consequences of a familial PAH-associated frameshift mutation in CAV1, P158PfsX22, on caveolae ass

111 We identified a frameshift mutation in caveolin-1 (CAV1), which encodes

112 p1 or pgp2 or a reduction in curvature due a frameshift mutation in cjj81176_1105, a putative peptido

113 le-genome sequencing identified a homozygous frameshift mutation in CORO1A disrupting the last 2 C-te

114 identified a spontaneous mouse mutant with a frameshift mutation in Crx (CrxRip).

115 he discovery cohort, we associated CD with a frameshift mutation in CSF2RB (P = 8.52 x 10(-4)); the f

116 on in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with C

117 We identified a frameshift mutation in CSF2RB that was replicated in an

118 Jewish individuals, we associated CD with a frameshift mutation in CSF2RB.

119 Tapasin loss is caused by a germ-line frameshift mutation in exon 3 (TAPBP(684delA)) along wit

120 ts ascertained are siblings who had an early frameshift mutation in EXOSC5 and the p.Thr114Ile missen

121 exome sequencing, we identified a homozygous frameshift mutation in EXPH5 in three siblings with inhe

122 ne receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malfo

123 g AD came from flaky tail mice, which have a frameshift mutation in Flg and also carry an unknown gen

124 We report an ultra-rare, heterozygous frameshift mutation in FZD5 (p.Ala219Glufs*49) that was

125 ine the effect of microsatellite length upon frameshift mutation in gene-specific sequence contexts,

126 Restoration of pathogenicity by repair of a frameshift mutation in GPCMV gene GP129 using this appro

127 ractivity, and ataxia, who carries a de novo frameshift mutation in KCNQ3 (KCNQ3-FS534), leading to t

128 bouriffe (ebo/ebo) harbors a homozygous 2-bp frameshift mutation in Lrrc8a that truncates the 15 term

129 ond family with 2 siblings with a homozygous frameshift mutation in MKL1.

130 lele frequency of 0.1% and found a recessive frameshift mutation in MYL4 that causes early-onset atri

131 In the fifth family, we identified a frameshift mutation in NNT, a nuclear-encoded mitochondr

132 We found a homozygous frameshift mutation in NOS2 encoding a truncated NOS2 pr

133 and functional evidence demonstrating that a frameshift mutation in one paralog, Helianthus annuus FT

134 An MNV replicon with a frameshift mutation in open reading frame 2 (ORF2) that

135 A frameshift mutation in pgp1 of our laboratory isolate of

136 n another family, we discovered a homozygous frameshift mutation in PSPH, the gene encoding phosphose

137 ygome/exome analysis identified a homozygous frameshift mutation in RSPRY1 with resulting nonsense-me

138 characterized a mouse model knocked-in for a frameshift mutation in RYR1 exon 36 (p.Gln1970fsX16) tha

139 ous cell carcinomas identified a case with a frameshift mutation in SCCRO that putatively codes for a

140 ete PAI-1 deficiency because of a homozygous frameshift mutation in SERPINE-1.

141 that stochastically becomes functional by a frameshift mutation in single cells.

142 tified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7.

143 exome sequencing revealed a novel homozygous frameshift mutation in the basic helix-loop-helix transc

144 f the COL13A1 c.1171delG (p.Leu392Sfs( *)71) frameshift mutation in the C2C12 cell line reduced acety

145 s rat is severely osteopetrotic because of a frameshift mutation in the colony-stimulating factor-1 (

146 er disrupted the start codon or introduced a frameshift mutation in the early coding region, ensuring

147 Genome sequencing identified a frameshift mutation in the eccCa1 gene.

148 uria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubu

149 osome 1p36-p35 and identified a heterozygous frameshift mutation in the gene encoding atrial natriure

150 A novel homozygous frameshift mutation in the gene encoding for LAT was ide

151 ere ketoacidosis and identified a homozygous frameshift mutation in the gene encoding monocarboxylate

152 equencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen permea

153 the two repressors, or to the selection of a frameshift mutation in the gene encoding the repressors

154 tified a spontaneous genomic duplication and frameshift mutation in the guanine exchange factor dedic

155 p A streptococcus carriage strain contains a frameshift mutation in the hasA gene resulting in loss o

156 A frameshift mutation in the human TWIK-related spinal cor

157 Mucin 1 kidney disease (MKD) results from a frameshift mutation in the MUC1 gene (MUC1-fs).

158 differences that might be found, including a frameshift mutation in the mycocerosic acid synthase gen

159 ed with whole exome sequencing (WES) a novel frameshift mutation in the SPART gene in 2 brothers pres

160 varian failure (POF) identified a homozygous frameshift mutation in the STAG3 gene leading to a prema

161 Unexpectedly, these data also revealed a frameshift mutation in the UL13 kinase in our strain F i

162 Positional cloning revealed an early frameshift mutation in tmie, the zebrafish ortholog of t

163 ailable from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) a

164 ons was rescued by a secondary, compensatory frameshift mutation in U(L)41.

165 l cancers from two independent cohorts where frameshift mutations in 19 genes were analyzed and CD3(+

166 heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmenta

167 d either homozygous or compound heterozygous frameshift mutations in 4 of 33 unrelated cases of LQTS

168 rance in M. tuberculosis caused by transient frameshift mutations in a homopolymeric tract (HT) of 7

169 The two evolved cell lines showed different frameshift mutations in a stretch of eight adenosines in

170 de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription

171 onsense-mediated mRNA decay in patients with frameshift mutations in BRCA1 and BRCA2.

172 strong selection against indels that caused frameshift mutations in coding regions.

173 k established between CD8(+) TIL density and frameshift mutations in colorectal cancer.

174 iseases, with higher frequencies of nonsense/frameshift mutations in DLBCL compared with FL.

175 Calreticulin (CALR) +1 frameshift mutations in exon 9 are prevalent in myelopro

176 After <SPTX, patients with nonsense or frameshift mutations in exons 2, 9, and 10 had a signifi

177 hout nephropathy, associated with homozygous frameshift mutations in FAT1.

178 Animals carrying 3 distinct frameshift mutations in fga were raised and bred to prod

179 us exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families

180 lysis of patients revealed several different frameshift mutations in intron 6 or exon 7 of KRT10.

181 rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized

182 we identified four homozygous truncation or frameshift mutations in MESD.

183 Expression of LCA-associated dominant CRX frameshift mutations in mouse retina mimicked the CrxRip

184 tumor-specific antigens derived from shared frameshift mutations in MSI-H cancer and Lynch syndrome

185 Here, we identify biallelic missense and frameshift mutations in NARS1 in seven patients from thr

186 failure and identified compound heterozygous frameshift mutations in NSMCE2.

187 We identified two missense and one frameshift mutations in one Pakistani and two Turkish fa

188 enotype resulted from nonsense, missense, or frameshift mutations in prfA Five strains carried hly mu

189 This work shows that frameshift mutations in rpoB can be a mutational mechani

190 re is thought to reflect the accumulation of frameshift mutations in sequences that are repeated with

191 These reversible frameshift mutations in the 7C HT of M. tuberculosis glp

192 Frameshift mutations in the calreticulin (CALR) gene are

193 Recently, frameshift mutations in the caveolar structural protein

194 re, we report the identification of frequent frameshift mutations in the coding mononucleotide repeat

195 ymptomatic carriers, we identified recurrent frameshift mutations in the cohesin-associated factor PD

196 ditional 1515 CD cases and 7052 controls for frameshift mutations in the colony-stimulating factor 2-

197 atal X-linked disorder caused by nonsense or frameshift mutations in the DMD gene.

198 is study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant

199 uncating frameshift, missense, or homozygous frameshift mutations in the last exon.

200 geria syndrome cells and mice by introducing frameshift mutations in the LMNA gene.

201 Compared with the exclusive activating frameshift mutations in the proline, glutamic acid, seri

202 oth type 2P (CMT2P) has been associated with frameshift mutations in the RING domain of LRSAM1 (an E3

203 ereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene that results in a

204 some MSI-H CRC cells despite the presence of frameshift mutations in the TGFBR2 gene because the muta

205 ome (>77,400 for 5- to 20-nt HP tracts), and frameshift mutations in these regions are likely to disr

206 Using CRISPR-Cas9, we introduced frameshift mutations in these risk genes in pools, withi

207 en probands had newly identified nonsense or frameshift mutations in this gene.

208 ndary somatic loss-of-function (nonsense and frameshift) mutations in SAMD9 rescued the growth-restri

209 utation (one missense, one nonsense, and one frameshift mutation) in GPR126.

210 In addition, four frameshift mutations including three novel mutations of

211 ignment, as virtually all RNF43 nonsense and frameshift mutations, including those in the C-terminal

212 state carcinoma cell line homozygous for the frameshift mutation induced altered regulation of severa

213 Here, we identify a new mechanism, termed frameshift mutation-induced alternative translation init

214 ats-associated protein 9 to introduce a Bcor frameshift mutation into NP23 hematopoietic stem and pro

215 bineering strategy to introduce simultaneous frameshift mutations into the flanking Hoxa9, Hoxa10 and

216 Recently, germline frameshift mutations involving the C-terminal tail of HI

217 Selection against frameshift mutation is a main constraint on tandem repea

218 SK current; thereby confirming that only the frameshift mutation is associated with loss of function

219 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this

220 This frameshift mutation leads to a caveolin-1 protein that c

221 This frameshift mutation leads to caveolin-1 protein that con

222 omatic NF1 loss was different in each tumor (frameshift mutation, loss of heterozygosity, and methyla

223 er tumors characterized by PIK3CA C-terminal frameshift mutations may derive benefit from p110alpha-s

224 indicated that loss of expression was due to frameshift mutations, mostly by addition or deletion of

225 ibuting to A-->T and A-->C transversions and frameshift mutations observed in cells following treatme

226 nia virus, rapid acquisition of inactivating frameshift mutations occurred.

227 lls from four members of a family in which a frameshift mutation of disrupted in schizophrenia 1 (DIS

228 A novel frameshift mutation of four-and-a-half LIM domain 1 gene

229 We observed frameshift mutations of CDKN1B in 14 of 180 SI-NETs, and

230 origin (pro-B1 ALL), accompanied by somatic frameshift mutations of the BCL6 interacting corepressor

231 mutated sequences as those of patients with frameshift mutations of the THRA gene.

232 rtaken to characterize the effects of a TPP1 frameshift mutation on the retina in Dachshunds.

233 One patient had exon 1 C31LfsX34 frameshift mutation, one had exon 4 Q130SfsX130 frameshi

234 Polkappa has the highest potential to create frameshift mutations opposite the abasic site.

235 false-positive calls of nonsense mutations, frameshift mutations, or genomic rearrangements for any

236 nonhomologous end joining repair, leading to frameshift mutations, or homology-directed repair using

237 moter methylation (P = .04), p53 nonsense or frameshift mutations (P = .01), and a gene expression si

238 s included a complete deletion of RTN2 and a frameshift mutation predicted to produce a highly trunca

239 The mutations included three frameshift mutations, predicted to encode truncated prot

240 We discovered multiple exon deletions, frameshift mutations, premature stop codons, and transcr

241 on of translation occurred downstream of the frameshift mutation, probably at the BRCA1-Met-297 codon

242 We used a minigene system to study two frameshift mutations, R1032Gfs 25 and D1037Rfs 82.

243 Significant changes in frameshift mutation rates were also observed in some hyb

244 owed a clear phenotype-genotype correlation: Frameshift mutations resulted in severe phenotypes with

245 Frameshift mutations resulting in a truncated Riz1 incap

246 sent in T-ALL are predominantly heterozygous frameshift mutations resulting in truncation of the C-te

247 enerate single-base deletions (also known as frameshift mutations) resulting from DNA template-strand

248 ce isolate, where the gene is disrupted by a frameshift mutation, resulting in a pseudogene.

249 premature stop codon introduced by the CHADL frameshift mutation results in nonsense-mediated decay o

250 This frameshift mutation results in the loss of the stop codo

251 The frameshift mutation results in the production of a trunc

252 4.0 x 10(-12), odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in

253 The capacity to make precisely directed frameshift mutations should greatly accelerate the molec

254 tive to valine-resistance assay that detects frameshift mutations showed that mutagenesis is elevated

255 MSI tumors had increased frameshift mutations, showed genetic evidence of immunoe

256 This new frameshift mutation shows that overlapping DSPP mutation

257 Null alleles with ACC2 nonsense mutations, frameshift mutations, small deletions, genomic rearrange

258 n PTPN22 was identified, including two novel frameshift mutations (ss538819444 and rs371865329) and t

259 athway is known to increase the frequency of frameshift mutations suggesting competition between thes

260 ble mutant that induces even higher rates of frameshift mutation than does the wild-type hAAG; the Y1

261 hotobacterial cqsA genes harbour a conserved frameshift mutation that abolishes CAI-1 production.

262 three SMO missense mutations, and one PTCH1 frameshift mutation that are novel and have not been doc

263 First, OG1X contains a frameshift mutation that inactivates the etaR response r

264 orchidism, and absent puberty), a homozygous frameshift mutation that is predicted to disrupt the 3 C

265 The duplication predicted a frameshift mutation that led to a premature stop codon a

266 ant AdEasyE1Delta2347, which carries the Hr6 frameshift mutation that prevents production of the E1B

267 it pays off handsomely, identifying a single frameshift mutation that segregates with the disease.

268 One tumor harbored a frameshift mutation that was germline in origin, thus re

269 ding to Nal(r) and for base substitution and frameshift mutations that occur in the lacZ gene.

270 Here we show that disease-causing frameshift mutations that result from microduplications

271 tations that fall on interfaces and nonsense/frameshift mutations that result in truncated negative r

272 6%) and consisted exclusively of nonsense or frameshift mutations that truncated the coding region at

273 s as a potential mechanism leading to an N-1 frameshift mutation, the nick left after the removal of

274 Through a 1-nt frameshift mutation, these two parts formed a single rea

275 ne repair, leading to substitution and short frameshift mutations, they are both a source of genome d

276 The introduction of frameshift mutations to exon 11 resulted in nonsense-med

277 editing can be used to efficiently introduce frameshift mutations to inactivate mutant genes.

278 We demonstrate that nonsense and frameshift mutations trigger NMD, providing further evid

279 a homozygous p.D18fs*13 TRDN-encoded triadin frameshift mutation was discovered in a 10-year-old fema

280 An independent de novo frameshift mutation was identified in a child with idiop

281 A homozygous frameshift mutation was identified in LRAT in 4 patients

282 Consequently, a frameshift mutation was identified in mucA, a key regula

283 A frameshift mutation was introduced that replaced the las

284 sing even further when at least one of these frameshift mutations was present in all tumor cells.

285 that result in amino acid substitutions and frameshift mutations were also observed, though in a rat

286 s repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI.

287 Frameshift mutations were associated with earlier age of

288 In total, six distinct frameshift mutations were found in eight subjects, and a

289 ere sequenced, and no missense, nonsense, or frameshift mutations were found.

290 Novel frameshift mutations were identified in 5 patients.

291 Frameshift mutations were introduced into the gag gene s

292 TIL densities increased when frameshift mutations were present within the ASTE1, HNF1

293 es); two siblings shared the same homozygous frameshift mutation, whereas one individual with sporadi

294 escribe a new humanized FUS-ALS mouse with a frameshift mutation, which fulfils both criteria: the FU

295 FOS-induced mutation was characterized by +1 frameshift mutations, which increased from 0% in control

296 t formally assess the association of the CR1 frameshift mutation with Alzheimer's disease due to insu

297 ne confirmed abnormal splicing, leading to a frameshift mutation with early termination.

298 of NCF4 showed compound heterozygosity for a frameshift mutation with premature stop codon and a miss

299 NA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in

300 The following 2 novel frameshift mutations within ZEB1 were identified: c.2617