ライフサイエンスコーパス: inactivating mutation

1 crocephaly comparable to that of humans with inactivating mutations.

2 re retrotranspositionally-incompetent due to inactivating mutations.

3 ut obvious oncogenic function including BRAF-inactivating mutations.

4 r frequencies in this unbiased comparison of inactivating mutations.

5 ps were similarly altered despite the fusion-inactivating mutations.

6 f dC to dU, leading to accumulation of virus-inactivating mutations.

7 A (PKA) regulatory subunit type 1A (PRKARIA)-inactivating mutations.

8 r VHL suppression in tumors that do not have inactivating mutations.

9 tus cells and rapidly reverted catalytically inactivating mutations.

10 ng axis in colon cancer cells harboring MLK4-inactivating mutations.

11 educed plasma triglyceride levels) and other inactivating mutations.

12 ne-third of its protein-coding genes contain inactivating mutations.

13 to treat the NSCLCs harbouring SMARCA4/BRG1-inactivating mutations.

14 a and found spontaneous development of Trp53 inactivating mutations.

15 families) were documented to share biallelic inactivating mutations affecting the NKX6-2 homeobox dom

16 onophore monensin reversed the effect of the inactivating mutation (alpha(H69A)) on ENaC cleavage, su

17 Carriers of other inactivating mutations also had lower triglyceride level

18 ls was associated with both reversion of the inactivating mutation and a variant with a compensating

19 d the association between the presence of an inactivating mutation and both plasma lipid levels and t

20 ion of human adrenal cells bearing a PRKAR1A-inactivating mutation and Prkar1a(+/-) mouse embryonic f

21 reports from Score et al and Kroeze et al of inactivating mutations and chromosome loss in SUZ12, EED

22 l carcinoma (LUSC) that is enriched for both inactivating mutations and deletions in NSD1.

23 this study, we report the identification of inactivating mutations and deletions in the X-linked pla

24 These data suggest that inactivating mutations and functional variants within ST

25 itive behaviors observed in humans with Pten inactivating mutations and potentially other autism spec

26 Phosphatase and tensin homolog (PTEN)-inactivating mutations and/or deletions are an independe

27 49 (24%) fludarabine-refractory CLL cases by inactivating mutations and/or gene deletions that distri

28 sequencing, we identified 15 distinct NPC1L1 inactivating mutations; approximately 1 in every 650 per

29 In lung cancer, inactivating mutations are found in 10 to 50% of cases,

30 is also a tumor suppressor, and homozygous, inactivating mutations are found in a wide range of huma

31 Major-effect inactivating mutations are frequent, but many were inher

32 adenocarcinoma in vivo, indicating that BRAF-inactivating mutations are initiating events in lung onc

33 CRC cells containing FBW7-inactivating mutations are insensitive to clinically use

34 ncrease type 2 diabetes risk in humans, rare inactivating mutations are protective.

35 These inactivating mutations arise predominantly from a single

36 e-nucleotide polymorphisms and four proposed inactivating mutations associated to Fanconi-Bickel synd

37 ccessful inhibitors, and more potent than an inactivating mutation at any of the other Gag cleavage s

38 iers of inherited heterozygous germline BAP1-inactivating mutations (BAP1(+/-)) developed one and oft

39 The inactivating mutations become 'swapped out' in the dimer

40 MxA associated with tubulin, but the GTPase-inactivating mutation blocked this association.

41 enzyme to the same degree as a catalytically inactivating mutation (C9A).

42 Genetic reversion of BRCA1-inactivating mutations can be the underlying mechanism o

43 patients with coronary heart disease had an inactivating mutation (carrier frequency, 0.04%) in cont

44 Inactivating mutations cause juvenile hemochromatosis, a

45 Multiple recurrent TET2-inactivating mutations derived from leukemia target eith

46 nteractions with a coactivator, MED12, or by inactivating mutations directly in GATA4 coactivators, i

47 Human carriers of a rare MYSM1-inactivating mutation display similar lymphopoietic defi

48 Inactivating mutations encoding truncated A20 proteins w

49 by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head

50 Mice targeted with a kinase-inactivating mutation (Fer(DR/DR)) or wild type (WT) wer

51 significant neurological defects arise from inactivating mutations found within the glycosyltransfer

52 Heterozygous carriers of NPC1L1 inactivating mutations had a mean LDL cholesterol level

53 nherited, some cases of dominantly inherited inactivating mutations have been reported.

54 st-ovarian cancer families compared with one inactivating mutation identified in 1,060 controls (P =

55 ing positional cloning we have identified an inactivating mutation in alk6b, a type IB bone morphogen

56 s low, and plasma from an individual with an inactivating mutation in BCHE still effectively hydrolyz

57 The patient's mother was heterozygous for an inactivating mutation in CD45 but the paternal alleles e

58 Its inactivating mutation in chronic proliferative dermatiti

59 is of the grechetto mutant, which harbors an inactivating mutation in cleavage and polyadenylation sp

60 S. aureus with an inactivating mutation in clumping factor A (clfA) showed

61 Sperm from mice targeted with a kinase-inactivating mutation in Fer failed to undergo capacitat

62 We describe an inactivating mutation in KISS1 in a large consanguineous

63 a Mycobacterium smegmatis strain carrying an inactivating mutation in LigD POL failed to reveal a rol

64 Unexpectedly an inactivating mutation in PDZ1 (Tyr(20) --> Ala) only par

65 In contrast, embryos expressing an inactivating mutation in pkd2, one of two autosomal domi

66 Most contain a biallelic inactivating mutation in SMARCB1, which is part of the c

67 nable to produce endogenous Neu5Gc due to an inactivating mutation in the CMP-Neu5Ac hydroxylase (CMA

68 genes (GAS) strain, AP53, contains a natural inactivating mutation in the covS gene (covS(M)) of the

69 The patient has an inactivating mutation in the gene encoding dipeptidyl pe

70 In this study, we show that mice with an inactivating mutation in the intramembrane protease sign

71 oprotein, BRAF(V600E), into mice carrying an inactivating mutation in the Mc1r gene (these mice have

72 ial characterization of mice with a targeted inactivating mutation in the p110delta subunit of phosph

73 ort that a pili-deficient mutant carrying an inactivating mutation in the pilus assembly motor PilB h

74 These AP53 cells contain an inactivating mutation in the sensor component of the clu

75 However, since the initial report of an inactivating mutation in the TCA cycle enzyme complex, s

76 istance was also lost, but by a compensatory inactivating mutation in the transcriptional regulator o

77 ere we report that mice with a heterozygous, inactivating mutation in the Tsc2 gene (Tsc2(+/-) mice)

78 old more potent in phenotypic mixing than an inactivating mutation in the viral protease, the target

79 It is caused by an inactivating mutation in tumor suppressor genes coding t

80 ld be made from luxoid mice, which harbor an inactivating mutation in Zbtb16.

81 rtery disease and the E40K variant and other inactivating mutations in 10,552 participants with coron

82 y was supported by the identification of T6S-inactivating mutations in a genome-wide screen for resis

83 FA cells have inactivating mutations in a signaling pathway that is cr

84 three TET genes, TET2 recurrently undergoes inactivating mutations in a wide range of myeloid and ly

85 e remaining Ptch1 allele showed a variety of inactivating mutations in all tumors analyzed, highlight

86 Carriers of E40K and other inactivating mutations in ANGPTL4 had lower levels of tr

87 75 participants who had 13 other monoallelic inactivating mutations in ANGPTL4.

88 Inactivating mutations in ANK3/unc-44 reverse this effec

89 man recessive genetic disease resulting from inactivating mutations in any of 16 FANC (Fanconi) genes

90 sed sequencing effort that uncovered somatic inactivating mutations in BAP1 in 23% of MPMs.

91 Germ line inactivating mutations in BRCA1 confer susceptibility fo

92 port the identification of recurrent protein-inactivating mutations in CDKN1A and FAT1.

93 Inactivating mutations in chymotrypsin C have been repor

94 Because inactivating mutations in ClC-Kb/K2 cause Bartter syndro

95 Detection of RlmN inactivating mutations in clinical resistance isolates s

96 Individuals bearing inactivating mutations in components of this response ex

97 functional consequences of activating and/or inactivating mutations in critical genes implicated in c

98 samples without collagen mutations, we found inactivating mutations in CRTAP and LEPRE1, suggesting a

99 s increased in isogenic cell lines harboring inactivating mutations in diverse elements of the IFN si

100 Inherited inactivating mutations in DNA MMR genes are causative fo

101 e ARD1 protein (KO-WT), or ARD1 protein with inactivating mutations in E3 ligase domain (KO-E3), or c

102 nd cap homeostasis is inhibited by Nck1 with inactivating mutations in each of these domains.

103 Inactivating mutations in Eda or Edar cause hypohidrotic

104 MRAP-MRAP-MC2-receptor fusion proteins with inactivating mutations in either MRAP or the receptor wa

105 ant tumor-suppressor gene syndrome caused by inactivating mutations in either TSC1 or TSC2, and the T

106 TSC) develop hamartomas containing biallelic inactivating mutations in either TSC1 or TSC2, resulting

107 esults from the generation of various kinase-inactivating mutations in either yeast or human cells ar

108 Inactivating mutations in epidermodysplasia verruciformi

109 hoproliferative syndrome (ALPS) is caused by inactivating mutations in FAS or FASL, with autoantibodi

110 egulated cyclin D1 drives tumorigenesis, and inactivating mutations in Fbx4 have been identified in h

111 me human diffuse large B-cell lymphomas have inactivating mutations in FBXO10 or express FBXO10 at lo

112 calcifications and hyperphosphatemia due to inactivating mutations in FGF23 or UDP-N-acetyl-alpha-D-

113 CREBBP is targeted by inactivating mutations in follicular lymphoma (FL) and d

114 We report de novo heterozygous inactivating mutations in GATA6 in 15/27 (56%) individua

115 In cancer cells with inactivating mutations in GATOR1, mTORC1 is hyperactive

116 rs has been the unexpected discovery of many inactivating mutations in genes that control the epigeno

117 These CERV2 receptor-inactivating mutations in hamster CTR1 are accompanied b

118 Inactivating mutations in hemojuvelin/repulsive guidance

119 n be assigned to molecular subtypes based on inactivating mutations in hepatocyte nuclear factor 1A,

120 n be assigned to molecular subtypes based on inactivating mutations in hepatocyte nuclear factor 1A,

121 Inactivating mutations in histone methyltransferase enha

122 These data provide the first description of inactivating mutations in human EKLF and the first demon

123 Inactivating mutations in human IL-2Rgammac result in SC

124 Our mouse data suggest that inactivating mutations in human P4HA2 are not likely to

125 roximal promoter region of ERalpha gene, and inactivating mutations in its HAT domain abolished its a

126 a connective tissue disease associated with inactivating mutations in lysyl hydroxylase 2 (LH2/PLOD2

127 g ketolytic defects yielded seven additional inactivating mutations in MCT1, both homozygous and hete

128 in remodeling: 44% of the tumors had somatic inactivating mutations in MEN1, which encodes menin, a c

129 ases with a mutator phenotype that harboured inactivating mutations in mismatch repair genes.

130 cholangiocarcinomas, we discovered frequent inactivating mutations in multiple chromatin-remodeling

131 Inactivating mutations in NF1 underlie the prevalent fam

132 We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encoding a tran

133 Finally, we observed inactivating mutations in NOTCH family genes in 25% of h

134 microtubule-severing activity resulting from inactivating mutations in one SPAST allele is the most p

135 ers, with more than 50% of cancers harboring inactivating mutations in p53 itself.

136 While inactivating mutations in PHF6 are commonly observed in

137 lycystic kidney disease (ADPKD) is caused by inactivating mutations in PKD1 (85%) or PKD2 (15%).

138 Although inactivating mutations in PRC2-encoding genes EZH2, EED,

139 Both activating and inactivating mutations in protein tyrosine phosphatase P

140 Recently, heterozygous inactivating mutations in PTPN11 were found in metachond

141 Two germline-inactivating mutations in RAD50 (c.1875C>G, p.Tyr625X an

142 involved in breast cancer and suggests that inactivating mutations in RAD50 predispose to pancreatic

143 adism, ataxia, and dementia can be caused by inactivating mutations in RNF216 or by the combination o

144 The preponderance of inactivating mutations in RNF43 unequivocally establish

145 electively in sensory and autonomic neurons; inactivating mutations in SCN9A, which encodes Nav1.7, r

146 Inactivating mutations in several genes that encode comp

147 Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-neg

148 Recently described inactivating mutations in Stat5b in humans with impaired

149 The occurrence of inactivating mutations in SWI/SNF chromatin-remodeling g

150 Here, we report the presence of CD45 inactivating mutations in T-cell acute lymphoblastic leu

151 Biallelic inactivating mutations in TBCK (TBC1-domain-containing k

152 zation disorders, is caused in most cases by inactivating mutations in the ABCC6 gene.

153 It is caused by inactivating mutations in the Adenomatous polyposis coli

154 Inactivating mutations in the ALK1 gene cause hereditary

155 Inactivating mutations in the Armadillo repeat-containin

156 autosomal-dominant disease arising from rare inactivating mutations in the CASR gene.

157 Although inactivating mutations in the CLN1 gene encoding palmito

158 apreomycin sensitivity and identification of inactivating mutations in the corresponding Mtb gene tly

159 -onset, progressive dementia associated with inactivating mutations in the CSF-1R highlights the impo

160 lity to renal cell carcinoma (RCC) caused by inactivating mutations in the folliculin (FLCN) gene.

161 Inactivating mutations in the Forkhead Box transcription

162 Inactivating mutations in the GALT-II gene (B3GALT6) ass

163 We have identified inactivating mutations in the gene BCKDK (Branched Chain

164 PXE is caused by inactivating mutations in the gene encoding ATP-binding

165 form of congenital diarrhea that arises from inactivating mutations in the gene encoding myosin Vb (M

166 insulinism of infancy (CHI) can be caused by inactivating mutations in the gene encoding short-chain

167 Inactivating mutations in the genes encoding the human k

168 Recent reports indicate that inactivating mutations in the histone methyltransferase

169 E322K substitutions in the MAPK1 gene (8%), inactivating mutations in the HLA-B gene (9%), and mutat

170 omes of 7,651 diverse human cancers and find inactivating mutations in the homeodomain transcription

171 Inactivating mutations in the insulin receptor results i

172 nts with congenital hyperinsulinism owing to inactivating mutations in the K(ATP) channel (K(ATP)HI)

173 widely used HCT116 cancer cell line contains inactivating mutations in the MLL3 gene.

174 arthritis (MOA) (MIM #605156), was caused by inactivating mutations in the MMP2 gene.

175 ibroblast growth factor (FGF) receptor 3 and inactivating mutations in the NPR2 guanylyl cyclase both

176 r this aberrant serology was the presence of inactivating mutations in the O-acetyltransferase gene w

177 se, Drp1, or decreased fusion resulting from inactivating mutations in the OPA1 GTPase, causes neuron

178 It is caused by inactivating mutations in the palmitoyl-protein thioeste

179 rative, lysosomal storage disorder caused by inactivating mutations in the palmitoyl-protein thioeste

180 atemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene.

181 all cases of LS are caused by catalytically inactivating mutations in the protein tyrosine phosphata

182 Most Cowden's disease patients harbor inactivating mutations in the PTEN tumor suppressor gene

183 Here we describe 11 different inactivating mutations in the REST gene (encoding RE1-si

184 Inactivating mutations in the retinoid isomerase (RPE65)

185 Inactivating mutations in the RGMc gene cause juvenile h

186 Inactivating mutations in the sphingosine-1-phosphate (S

187 Inactivating mutations in the Staphylococcus aureus viru

188 We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeli

189 pogonadotropic hypogonadism in patients with inactivating mutations in the TAC3 or TACR3 genes.

190 Inactivating mutations in the thyroid hormone (TH) trans

191 Close to half of all solid tumors carry inactivating mutations in the TP53 gene, while in the re

192 Inactivating mutations in the transcriptional repression

193 ructive neoplasm of the lung associated with inactivating mutations in the TSC1 or TSC2 tumor suppres

194 It is frequently caused by inactivating mutations in the TSC2 tumor-suppressor gene

195 Inactivating mutations in the ubiquitin (Ub) editing pro

196 (XNDI) is a severe kidney disease caused by inactivating mutations in the V2 vasopressin receptor (V

197 ney cancer, characterized by the presence of inactivating mutations in the VHL gene in most cases, an

198 ctional V1Rs, only pseudogenes, and suffered inactivating mutations in the vomeronasal signal transdu

199 abnormalities exhibited by patients bearing inactivating mutations in the Wiskott-Aldrich syndrome p

200 physiology is strengthened by the rarity of inactivating mutations in their genes and by the devasta

201 subfunctionalized by acquiring complementary inactivating mutations in these interaction domains.

202 Inactivating mutations in this conserved region or in p1

203 Inactivating mutations in this enzyme lead to chronic gr

204 Inactivating mutations in TMPRSS6 lead to elevated hepci

205 Individuals homozygous for inactivating mutations in TREM2 exhibit demyelination of

206 Inactivating mutations in TRNT1 have been previously sho

207 disease associated with germline or somatic inactivating mutations in tuberous sclerosis complex gen

208 Tumor suppressors are mostly defined by inactivating mutations in tumors, yet little is known ab

209 Here we report the identification of inactivating mutations in two genes encoding enzymes inv

210 d from patients with cCSNB identified GPR179-inactivating mutations in two patients.

211 ve been identified in WT patients, including inactivating mutations in WT1 and loss of heterozygosity

212 RPE65 homology model and locating all known inactivating mutations including Gly244Val within this m

213 nction of UL12, we introduced an exonuclease-inactivating mutation into the viral genome.

214 xyeth yl)-4-methoxybenzenesulphonamide)] and inactivating mutations (K42M, A302R, and T305/T306D) imp

215 Heterozygous Gsalpha-inactivating mutations lead to obesity in Albright hered

216 of bladder tumours and cell lines, we found inactivating mutations (nonsense, frameshift and splicin

217 We identified carriers of inactivating mutations (nonsense, splice-site, or frames

218 PrxII deletion in mice with inactivating mutation of adenomatous polyposis coli (APC

219 Germ line-inactivating mutation of Lkb1 leads to Peutz-Jeghers syn

220 type C disease is largely attributable to an inactivating mutation of NPC1 protein, which normally ai

221 y IL-18, but not IL-1beta, resulting from an inactivating mutation of the actin-depolymerizing cofact

222 Mechanistic analyses demonstrate that inactivating mutation of the catalytic site of SULF1 imp

223 Mice that were homozygous for a targeted, inactivating mutation of the laminin-alpha2 gene were pl

224 s critical for crosslink repair, a predicted inactivating mutation of the Walker B box domain has no

225 H/HeN and C3H/HeJ mice, which have a natural inactivating mutation of TLR4, revealed that Ang4 expres

226 al affected individuals, we discovered novel inactivating mutations of ARID2 in four major subtypes o

227 plasia appear to be genetic, most often with inactivating mutations of ARMC5, a putative tumor-suppre

228 Germline-inactivating mutations of BAP1 predispose to mesotheliom

229 ns lacking caveolae due to gene knock-out or inactivating mutations of cavin-1/PTRF have numerous pat

230 Given the previous reports of inactivating mutations of DNMT3A in acute myelogenous le

231 lates cell size and growth, is observed with inactivating mutations of either of the tuberous scleros

232 Here, we demonstrate that inactivating mutations of FH in an HLRCC-derived cell li

233 of ISG15 described in mice, humans born with inactivating mutations of ISG15 do not present with any

234 metastases and as neither gene deletions nor inactivating mutations of PPM1A have been described, inc

235 Inactivating mutations of PRDM1 have been previously ide

236 rikingly, all LGK974-sensitive lines carried inactivating mutations of RNF43.

237 hildren with hyperinsulinism associated with inactivating mutations of short-chain 3-hydroxyacyl-CoA

238 Inactivating mutations of STAG2 have been reported at lo

239 umor types were found to harbor deletions or inactivating mutations of STAG2, a gene encoding a subun

240 Colon cancers frequently bear inactivating mutations of the adenomatous polyposis coli

241 sregulated insulin secretion often caused by inactivating mutations of the ATP-sensitive K+ (KATP) ch

242 ulin secretion most commonly associated with inactivating mutations of the beta-cell ATP-sensitive K(

243 Misexpression or inactivating mutations of the BMP receptor gene can lead

244 Inactivating mutations of the BMPRII gene, which encodes

245 Inactivating mutations of the catalytic component of PRC

246 ied mutations in EZH2, ARID1A, and recurrent inactivating mutations of the cell cycle inhibitor CDKN1

247 Here we report hemizygous or homozygous inactivating mutations of the chromosome 14q MAX gene in

248 Inactivating mutations of the endopeptidase PHEX or the

249 Inactivating mutations of the gene encoding the tricarbo

250 migratory erythema), while in subjects with inactivating mutations of the glucagon receptor, pancrea

251 Most notably, inactivating mutations of the histone-lysine N-methyltra

252 Inactivating mutations of the neurofibromatosis 2 (NF2)

253 Inactivating mutations of the NF-kappaB essential modula

254 ocortical disease (PPNAD) is associated with inactivating mutations of the PRKAR1A tumor suppressor g

255 Inactivating mutations of the RASA1 gene are the cause o

256 el (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes

257 ough one copy of CHD5 is deleted frequently, inactivating mutations of the remaining allele are rare.

258 come from the study of humans and mice with inactivating mutations of the sclerostin gene that both

259 Inactivating mutations of the SOST (sclerostin) gene are

260 Inactivating mutations of the Ten-Eleven Translocation 2

261 child with severe BMF who harbored biallelic inactivating mutations of the translesion DNA synthesis

262 Inactivating mutations of the TSC1/TSC2 complex (TSC1/2)

263 Inactivating mutations of the von Hippel-Lindau (VHL) tu

264 Because inactivating mutations of these genes are common in huma

265 al p53/p21 response patterns associated with inactivating mutations of TP53 and ATM, respectively.

266 As somatic rather than germline inactivating mutations of TP53 are typically associated

267 ary GBM, demonstrating unexpectedly frequent inactivating mutations of TP53 as well as the expected P

268 ly by activating mutations of FGFRs 1-3, and inactivating mutations of TWIST1.

269 nd that phenocopies the effects of a Bdf1 BD-inactivating mutation on C. albicans viability.

270 tiparallel MRAP molecules and then introduce inactivating mutations on one side of the membrane or th

271 wherein two variant Envs harboring different inactivating mutations (one in gp120, the other in gp41)

272 hosphatidylinositol [GPI] biosynthesis) have inactivating mutations, one in the germ line and one som

273 wnstream validation study confirmed frequent inactivating mutations or protein deficiency of ARID1A,

274 of vacuoles with diagnostic distributions of inactivating mutations over the two fusion partners conf

275 In addition, we genotyped a specific inactivating mutation (p.Arg406X) in 22,590 patients wit

276 to ASV Gag, HIV-1 Gag containing an L domain inactivating mutation (P7L) was efficiently rescued by f

277 Notably, this inactivating mutation reduced the probability of reacqui

278 ugh half of cutaneous human SCCs display p53-inactivating mutations, restoring p53/TACE activity in m

279 it bone growth, resulting in dwarfism, while inactivating mutations significantly enhance bone elonga

280 ype human Pol beta or human Pol beta with an inactivating mutation specific to the polymerase active

281 ry showed that in the majority of cases with inactivating mutations, STAG2 protein expression was abs

282 gene in HRS cells, with 7 of 10 cases having inactivating mutations that lead to loss of major histoc

283 of ancient retroviral infections and harbor inactivating mutations that render them replication defe

284 at overexpress cyclin D1, Fbx4 is subject to inactivating mutations that specifically disrupt dimeriz

285 and negative areas from one tumour showed an inactivating mutation to be present only in the negative

286 By making inactivating mutations to the catalytic residues of huma

287 Here, we used CRISPR/Cas9 to make inactivating mutations to the NLS on the Il1a gene.

288 Moreover, CDK12-inactivating mutations together with the TD-plus phenoty

289 ellular acidification in oocytes carrying an inactivating mutation (W287G/E425C), although these chan

290 Inactivating mutation was associated with low tumour sta

291 uently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represe

292 Furthermore, STK11/LKB1-inactivating mutations were associated with reduced expr

293 Two inactivating mutations were identified in breast tumor s

294 us, dimerization of a subunit containing the inactivating mutation with a functional subunit can comp

295 The most common inactivating mutation with a global allele frequency of

296 rest, we reported biallelic deletions and/or inactivating mutations with uniparental disomy in tumor

297 nt multiple distinct and spatially separated inactivating mutations within a single tumor, suggesting

298 Inactivating mutations within adenomatous polyposis coli

299 solates were discovered to contain identical inactivating mutations within genes encoding two regulat

300 all extant bird orders and recovered shared, inactivating mutations within genes expressed in both th