ライフサイエンスコーパス: heterozygous

1 r cells (NPCs) derived from individuals with heterozygous 15q13.3 deletions and heterozygous 15q13.3

2 uals with heterozygous 15q13.3 deletions and heterozygous 15q13.3 duplications to investigate the CHR

3 both wild-type and mutant SM alpha-actin in heterozygous ACTA2-R258C cells.

4 Additionally, Crkl heterozygous adult males exhibit cryptorchidism, lower t

5 a 16 year-old patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait.

6 ents revealed a sickle S trait associated to heterozygous alpha thalassemia.

7 aemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknow

8 In all, 30.5% of the patients were heterozygous and 4% were homozygous for CFHR3,1Delta We

9 ercentages of iMOs in the blood and brain of heterozygous and CCR2(-/-) mice following infection.

10 was expressed in 238 cases, 209 and 29 being heterozygous and homozygous for this antigen, respective

11 d accounts for the relative contributions of heterozygous and homozygous loci-that is, dominance.

12 mEC layer II neurons of heterozygous and homozygous mice were hyperexcitable and

13 indings, human ADPKD cyst-derived cells with heterozygous and homozygous PKD1 mutation exhibited morp

14 Compared with wild-type mice, heterozygous and homozygous R607H knockin mice displayed

15 tation patterns; PSSV can thus differentiate heterozygous and homozygous SVs in each sample, enabling

16 ITSN-deficient mice (knockout/heterozygous and knockdown) were subjected to targeted l

17 weight was significantly increased in Mybphl heterozygous and null mice.

18 ction and an increased rate of arrhythmia in heterozygous and null mice.

19 Echocardiography of Mybphl heterozygous and null mouse hearts exhibited a 36% reduc

20 frequency in Mexico, where we identified 153 heterozygous and three homozygous individuals among 3,13

21 These results show that heterozygous animals contain PrP(Sc) that is composed of

22 Heterozygous animals express mutant humanized FUS protei

23 se-with progressive loss of motor neurons in heterozygous animals.

24 Our test is motivated by compound heterozygous architectures, a common disease model for r

25 Mice with liver-specific homozygous or heterozygous Arid1a loss were resistant to tumor initiat

26 Spinal cord tissue from heterozygous (ARQ/VRQ or ARH/ARQ) scrapie-infected Rasa

27 genotype populations of individuals that are heterozygous at many loci.

28 his effect is not observed in ovariectomized heterozygous BDNF Val66Met females, suggesting that circ

29 In mice with cardiac-specific heterozygous Bin1 deletion, flow cytometry identified 47

30 of short stature and skeletal anomalies in a heterozygous Bmp2-knockout mouse model, suggesting that

31 VTA DA neurons in wildtype and DAT-Cnr2 cKO heterozygous but not in the homozygous DAT-Cnr2 cKO mice

32 e patient and one of her children detected a heterozygous c.206A-->T transition, causing an E69V miss

33 ene in the patient and his mother detected a heterozygous c.305T>C alteration in exon 3, which causes

34 We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucle

35 Diabetic Akita mice, which carry a heterozygous C96Y Ins2 mutation, exhibit elevated PLIN2

36 ted that approximately 1 in 309 people was a heterozygous carrier for an LOF mutation.

37 gous, dominant disease-causing variants from heterozygous carrier variants that lead to disease only

38 A heterozygous caveolin-1 c.474delA mutation has been iden

39 The gene correction efficiency was 20.6% in heterozygous cells and 41.3% in homozygous cells.

40 mine transporter (Slc6a3)-driven conditional heterozygous (cHET) reduction of Gls1 in their dopamine

41 Nine heterozygous CNVs were identified in 11 (6.9%) of the 16

42 Heterozygous conditional inactivation of Setd2 in a muri

43 on, the gene-edited F0 embryos are uniformly heterozygous, consistent with a mutation in only the mat

44 Heterozygous CTLA-4 deficiency has been reported as a mo

45 tive in terminating re-entry associated with heterozygous D172N conditions, whereas IKr block alone m

46 s with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative r

47 e Mecp2 hemizygous null mice as offspring of heterozygous dams.

48 of embryo genotype was seen in concepti from heterozygous dams.

49 Heterozygous db mice (db/+) present with glucose intoler

50 Previous studies have reported heterozygous de novo CTNNB1 mutations as a cause of synd

51 Heterozygous deficiency of APOC3 has been shown to prote

52 to allow for germline variant filtering and heterozygous deletion detection.

53 All 5 affected individuals carried a large heterozygous deletion encompassing all 6 exons of GCH1.

54 nables the generation of transient homo- and heterozygous deletion libraries and allows for the ident

55 In a transgenic pre-B ALL mouse model, the heterozygous deletion of Pax5 increased glucose uptake a

56 Heterozygous deletion of Sirt1 induces c-Myc expression,

57 on of GN with nephrotoxic serum, mice with a heterozygous deletion of the connexin 43 gene (connexin

58 tably, up to 70% of cancer patients showed a heterozygous deletion or missense mutations in PPP2R4 Ca

59 and identified an in-frame germline compound heterozygous deletion, p.[Gln1478del];[Gln1476-Gln1478de

60 We identified heterozygous deletions of 22q11.2 in 1.1% of the patient

61 milies, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting

62 Here, we describe heterozygous dominant mutations in GRM1, which encodes m

63 s; however, they are unable to differentiate heterozygous, dominant disease-causing variants from het

64 single heterozygous mice are normal, double heterozygous embryos (Irf6 (+/-) ; Twist1 (+/-) ) can ha

65 We also identified a novel heterozygous ENAMp.L31R mutation causing AI in humans.

66 ory gene network alterations in human NOTCH1 heterozygous endothelial cells.

67 To address this question, heterozygous ERalpha knockout (WT/KO) dams were fed a co

68 their distribution became a mosaic in Pcdh19 heterozygous female cortices.

69 Nevertheless, Pcdh19 hemizygous males and heterozygous females showed impaired behaviors including

70 G6PD heterozygous females, because of individual variation in

71 Heterozygous (FGFR3(ACH/+)) and homozygous (FGFR3(ACH/AC

72 inical diagnosis of homozygous FH and two of heterozygous FH.

73 ssive myofibrillar tension were decreased in heterozygous fiber bundles, but increased in homozygous

74 ession of the Flcn K508R mutant transgene in heterozygous Flcn knockout mice resulted in development

75 nd iPSCs from a control line with a targeted heterozygous FLI1 knockout (FLI1(+/-)).

76 oblasts from patients homozygous or compound heterozygous for a combination of known severe mutations

77 nrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affe

78 We therefore evaluated hematopoiesis in mice heterozygous for a constitutive null Dnmt3a mutation.

79 FAP turnover in a mouse model of AxD that is heterozygous for a disease-causing point mutation (Gfap(

80 Furthermore, mice heterozygous for a null allele of Nrip1 showed a CAKUT-s

81 iac development and confirm that individuals heterozygous for BMP2 truncating sequence variants or de

82 As in 15q13.3DS, mice heterozygous for Chrna7 were significantly more aggressi

83 An HD mouse model heterozygous for CK2alpha' shows increased HSF1 and chap

84 The mixed prion type 1-2 and cases heterozygous for codon 129 generated intermediate CSF RT

85 Mice heterozygous for Drp1 deletion did not exhibit altered v

86 Femur bone density was unchanged in mice heterozygous for Drp1 deletion, and DRP1 inhibition atte

87 Of the 10 individuals identified who were heterozygous for either SAMD9L mutation, 3 developed MDS

88 Patients were compound heterozygous for frameshift and splice site mutations le

89 om monoallelic expression among 47 placentas heterozygous for H19 and 37 placentas and cord blood tis

90 While adults heterozygous for hemoglobin S mutation were less often p

91 H19 and 37 placentas and cord blood tissues heterozygous for IGF2 and H19 methylation levels of 48 p

92 e form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that enc

93 9.4% of mice heterozygous for Npr2 had congenital bicuspid aortic val

94 .Gly131Glu, whereas one patient was compound heterozygous for p.Gly131Glu and the splice site mutatio

95 sults in an embryonic lethal phenotype, mice heterozygous for p32 are resistant to age- and high-fat

96 Asymptomatic parents, who were heterozygous for PEX c.2578C>T, did not show AEI and wer

97 nrelated, otherwise healthy children who are heterozygous for rare missense mutations in POLR3A (one

98 biota occurred after a few months in TG mice heterozygous for REG3A that harbored a wild-type materna

99 participants were enrolled, of whom 34 were heterozygous for the G6PD Mahidol variant.

100 wo full-length, genomic human HTT transgenes heterozygous for the HD mutation and polymorphisms assoc

101 wo full-length, genomic human HTT transgenes heterozygous for the HD mutation and polymorphisms assoc

102 only wild-type Zeb2 (Zeb2(+/+) EPCs) or were heterozygous for the mutation (Zeb2(Delta/+) EPCs) were

103 Parents heterozygous for the mutation exhibited no abnormalities

104 Strikingly, mice heterozygous for the patient mutation and a null allele

105 us in patients with cystic fibrosis who were heterozygous for the Phe508del deletion and a CFTR resid

106 ge or older who had cystic fibrosis and were heterozygous for the Phe508del mutation and a CFTR mutat

107 One in 200 blood donors are heterozygous for the TACI A181E mutation.

108 Then brain neurons from mice homozygous or heterozygous for the Tau (Mapt) null allele were found t

109 We examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopmen

110 Heterozygous GATA2 mutation is associated with immunodef

111 Heterozygous germ-line mutations in the bone morphogenet

112 All carriers of inherited heterozygous germline BAP1-inactivating mutations (BAP1(

113 We used male and female heterozygous Gnal knock-out mice (Gnal(+/-)) to study ho

114 Heterozygous green fluorescent protein (GFP)-knock-in mi

115 Heterozygous Gsalpha-inactivating mutations lead to obes

116 6 species of BAs with 170 wild-type and 107 heterozygous healthy individuals.

117 Although cacna1c heterozygous (HET) mice have been previously reported to

118 x-week-old male BCO2 systemic knockout (KO), heterozygous (Het), and wild type (WT) mice fed a chow d

119 Infections of the lower genital tract in heterozygous (immunocompetent) mice of the NU/J strain p

120 These mutations were detected heterozygous in 2 subjects among 100 unrelated individua

121 We crossed Irf6 heterozygous ( Irf6(+/-)) mice with transgenic mice that

122 Heterozygous Jagged1 knockout mice, a model for Alagille

123 defects and hearing loss in one patient with heterozygous JAGGED1 loss, and a diversity of conductive

124 tion defect caused by homozygous or compound heterozygous KDM5B variants and resulting in a recogniza

125 light exposure were significantly slower in heterozygous KI mice compared with WT and RPE65 heterozy

126 , levels of 11-cis-RAL in fully dark-adapted heterozygous KI mice were similar to that in WT mice.

127 hough RPE65 protein levels were decreased in heterozygous KI mice, their scotopic, maximal, and photo

128 n two in vivo models of podocyte damage (WT1 heterozygous knockout mice and puromycin aminonucleoside

129 Hlx heterozygous knockout mice have defects in brown-like ad

130 or genetic factor underlying binge eating in heterozygous knockout mice on a C57BL/6N background that

131 erozygous KI mice compared with WT and RPE65 heterozygous knockout mice.

132 solated from mouse pancreas bearing targeted heterozygous knockout of Grp78 (c78(f/+) ) and subjected

133 ctrophysiological studies in Hey2(+/-) (Hey2 heterozygous knockout) mice to dissect the underpinnings

134 Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4).

135 null mice had less of an impact than in AHR heterozygous littermates, although some protection was s

136 ncreased in homozygous CNP-hEGFR mice versus heterozygous littermates, and neurofibroma number and si

137 bsent in CB1 knock-out mice but preserved in heterozygous littermates.

138 Heterozygous LoF mutations within the FANCM gene were si

139 ted in female compared to male ESCs, and its heterozygous loss in female ESCs leads to male-like meth

140 These mutations included five de novo heterozygous loss of function mutations/deletions in the

141 Heterozygous loss of function of PTEN in human subjects

142 e genome-wide estimates of selection against heterozygous loss of gene function.

143 In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a dis

144 enerational heritability of Cas9 activity in heterozygous loss-of-function mutant backgrounds, to rap

145 thy affecting children, largely results from heterozygous loss-of-function mutations in the brain vol

146 to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman

147 fy 27 genes that have homozygous or compound heterozygous loss-of-function variants in PD cases.

148 4 weeks prior to mating with WT/KO males or heterozygous males with an ERalpha DNA-binding domain mu

149 u haploinsufficiency in postnatal day 0 (P0) heterozygous (Mapt(+/-)) pups, but not a complete loss o

150 ous maternal plants, but not in wild-type or heterozygous maternal plants.

151 Genetic ablation of CBS in CBS heterozygous mice (CBS(+/-) ) reduced the number of muta

152 neered mice, with human P2X7R, revealed that heterozygous mice (i.e., they coexpress the disease-asso

153 han other Atoh1-positive cell types and that heterozygous mice actually develop hearing loss late in

154 While single heterozygous mice are normal, double heterozygous embryo

155 versed the increase in permeability in KRIT1 heterozygous mice as shown by intravital microscopy.

156 r cell-enriched transcripts in the Gfi1(Cre) heterozygous mice cochleae compared with their wild-type

157 quences of PLAG1 deficiency in knock-out and heterozygous mice compared to wild-type mice using RNA-s

158 Because prior studies of Atoh1-heterozygous mice did not examine or report on hearing l

159 Arid1b-heterozygous mice exhibited abnormal cognitive and socia

160 ependence in cells, intestine-specific Sirt1 heterozygous mice have enhanced intestinal tumor formati

161 Compound-heterozygous mice lacking 1 copy of Pkd1 and Taz exhibit

162 We also found that Atoh1 heterozygous mice of both sexes (Atoh1(lacZ/+)) have adu

163 gical activation of CREB in the female Mecp2 heterozygous mice rescued several behavioral defects.

164 UPR acting in pro-survival mode, Enamp.S55I heterozygous mice secreted structurally normal enamel.

165 Arid1b-heterozygous mice showed a decreased number of cortical

166 Primary hippocampal cells derived from heterozygous mice showed an attenuated calcium uptake up

167 ting ADIPOQ protein level were lower in Brd4 heterozygous mice than in wild-type mice at 21 days afte

168 We used 3T3-L1 adipocytes and Brd4 heterozygous mice to investigate whether the induction o

169 We generated Arid1b heterozygous mice, which showed social behavior impairme

170 served analogous lymphocyte defects in Bach2-heterozygous mice.

171 bored both the PAX9 c.592delG mutation and a heterozygous missense mutation (c.739C>T) in the MSX1 ge

172 d cosegregation of the PA phenotype with the heterozygous missense mutation c.4136G>T (p.Arg1379Leu)

173 A heterozygous missense mutation c.634G > C (p.G212R) subs

174 eover, we identified a unique patient with a heterozygous missense mutation in the coiled-coil domain

175 motor neuron identity, including MAFB, or by heterozygous missense mutations in CHN1, which encodes a

176 Exome sequencing identified de novo heterozygous missense mutations in four probands with in

177 Genetic studies uncovered heterozygous missense mutations in SAMD9L, a tumor suppr

178 De novo heterozygous missense mutations in the gene encoding tra

179 ents, including the initial case, with three heterozygous missense mutations in WFS1 (4/5 confirmed d

180 n-Macrostomia syndromes were found to harbor heterozygous missense substitutions in the paralogous gl

181 A heterozygous mouse model of episodic ataxia type 1 harbo

182 Then, using the Kir2.1(+/-) heterozygous mouse model, we establish that downregulati

183 By contrast, heterozygous mpk6 mutant plants completely failed to pro

184 In addition, compound heterozygous MRPS34 mutations were identified in a proba

185 t of WT KRAS with a mutant allele sensitized heterozygous mutant HCT116 cells to treatment.

186 cted with an apparent dominant ZSD in whom a heterozygous mutant PEX6 allele (c.2578C>T [p.Arg860Trp]

187 further suggestive of selection against the heterozygous mutant state as tumors progress.

188 targeted exome sequencing identified a novel heterozygous mutation (p.Arg52Leu) in the GNB2 gene that

189 Affected relatives harbor a heterozygous mutation in KCNH2 that encodes for p.T152Hf

190 A heterozygous mutation in RELA, encoding the NF-kappaB su

191 In this study, we identified a de novo heterozygous mutation in the developmental transcription

192 Of six probands with only a single heterozygous mutation in TYR, all were found to have the

193 ed missing heritability, where only a single heterozygous mutation is found in TYR.

194 Heterozygous mutation of IDH1/2 and accumulation of 2-HG

195 The exome sequencing revealed a heterozygous mutation, c.770A > G (p.His257Arg), in the

196 We describe heterozygous mutations (c.2142_2157dup [p.His720( *)] an

197 early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in beta-tubulin

198 re nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.

199 dversely affect lung development, concurrent heterozygous mutations in both NANCI and Nkx2.1 leads to

200 individuals, from four families, with novel heterozygous mutations in CARD11, which encodes a scaffo

201 This suggests that the heterozygous mutations in L-ORD show a dominant negative

202 the identification of those somatic SVs with heterozygous mutations in normal samples and homozygous

203 a rare, recognizable syndrome resulting from heterozygous mutations in PIK3R1 encoding a regulatory s

204 Heterozygous mutations in progranulin (PGRN) cause famil

205 ON THIS ARTICLE: It has been postulated that heterozygous mutations in recessive Parkinson's genes ma

206 DBA is most often due to heterozygous mutations in ribosomal protein (RP) genes t

207 attributed to either homozygous or compound heterozygous mutations in RPE65.

208 hitecture in Mendelian diseases of immunity: heterozygous mutations in SE-regulated genes identified

209 on sequencing approaches to identify de novo heterozygous mutations in sterile alpha motif domain-con

210 Recently, heterozygous mutations in the ACAN gene coding for the p

211 Recent studies have identified heterozygous mutations in the CAV1 gene in patients with

212 Heterozygous mutations in the coding region of the RET g

213 Heterozygous mutations in the gene encoding the bone mor

214 logical disorder affecting mostly girls with heterozygous mutations in the gene encoding the methyl-C

215 Alexander disease (AxD), which is caused by heterozygous mutations in the GFAP gene, which is the ge

216 Heterozygous mutations in the human paired box gene PAX6

217 The identification of heterozygous mutations in the metabolic enzyme isocitrat

218 Heterozygous mutations in the X-linked MECP2 gene cause

219 as an autosomal dominant trait, is caused by heterozygous mutations of the chemokine receptor CXCR4.

220 maturity-onset monogenic diabetes, caused by heterozygous mutations of the HNF4A gene.

221 Heterozygous mutations or deletions of the human Euchrom

222 FANCM is a DNA-damage response gene whose heterozygous mutations predispose to breast cancer.

223 Heterozygous mutations were identified in PF-382 and DU.

224 Heterozygous mutations within homozygous sequences desce

225 In cells bearing such heterozygous mutations, we find that a cellular metaboli

226 lly express wild-type and mutant alleles for heterozygous mutations.

227 reproducibility of the technique with other heterozygous mutations.

228 Here we describe the correction of the heterozygous MYBPC3 mutation in human preimplantation em

229 P among wild-type (MYH9(+/+) ) mice and mice heterozygous (MYH9(+/E1841K) ) and homozygous (MYH9(E184

230 that both fibroblasts obtained from skin of heterozygous Ndufc2 knock-out rat model showed marked mi

231 Rare homozygous and compound-heterozygous nonsense (c.1213C > T, rs139309795, p.Arg40

232 A rare heterozygous nonsense mutation in PNKD was co-segregated

233 We identified heterozygous nonsense mutations in four and potentially

234 Three patients harbored heterozygous nonsense or splice-site variants in the nuc

235 ts, we identify two probands with novel RFX6 heterozygous nonsense variants.

236 rried rare biallelic (homozygous or compound heterozygous) nonsynonymous or splice-site variations in

237 e bone marrow and spleen were harvested from heterozygous Notch2HCS mice and sex-matched control litt

238 A heterozygous novel c.C88T 1-bp substitution resulting in

239 , unaffected parents and identified compound heterozygous null mutations in LRBA Biallelic LRBA mutat

240 a therapeutic target for breast tumors with heterozygous or homozygous loss of PTPN23.

241 Heterozygous or homozygous mpk6 embryos have defects onl

242 Compound heterozygous or homozygous mutations in IRF8 in 3 unrela

243 ompared as well as those that were wildtype, heterozygous, or homozygous for the TSLPrs1898671 single

244 and sterile, and homozygous mpk1 seeds from heterozygous parents were defective in embryo developmen

245 somal-recessive disorders, in which only one heterozygous pathogenic variant is identified.

246 ant analysis showed that the trio shared 145 heterozygous pathogenic variants in 139 genes, including

247 ary ex vivo myeloid cells were isolated from heterozygous patients and transfected with SNP-targeted

248 ant difference observed between wildtype and heterozygous patients in the majority of the outcomes st

249 significant difference between wildtype and heterozygous patients were found.

250 In heterozygous patients with a diabetic syndrome called mu

251 Heterozygous PINK1 p.G411S mutations markedly increased

252 A heterozygous point mutation of histone H3 occurs in more

253 Mitochondrial extracts derived from heterozygous Polbeta mouse tissue and KO cells had lower

254 mutations in POLR3A and identified compound heterozygous POLR3A mutations in approximately 3.1% of i

255 ital urinary anomalies had newly identified, heterozygous protein-altering variants, including a prem

256 s distribution of selection coefficients for heterozygous protein-truncating variants (PTVs), we prov

257 ated and subsequently subjected immortalized heterozygous R349P desmin knock-in myoblasts to magnetic

258 n hematopoiesis and immunity of the compound heterozygous R83C/R291Q mutation of IRF8, which is prese

259 We discovered compound heterozygous rare mutations in Go-Ichi-Ni-San (GINS) com

260 metabolome and highlights the importance of heterozygous rare variants in determining abnormal blood

261 rprisingly, we found that homozygous but not heterozygous rare variants in genes associated with inhe

262 Our study demonstrates that heterozygous RFX6 protein truncating variants are associ

263 a single base resolution for homozygous and heterozygous samples, respectively.

264 Heterozygous Scn1a knockout (Scn1a (+/-)) mice recapitul

265 Here we evaluated heterozygous Scn2a gene deletion (Scn2a+/-) as a protect

266 Heterozygous (Scn8a(D/+)), homozygous (Scn8a(D/D))), and

267 e allelic DAP interactions and the impact of heterozygous sequence variation on the expression of nei

268 data and genotyping errors, particularly at heterozygous sites.

269 efore, we developed THE REAL McCOIL, Turning HEterozygous SNP data into Robust Estimates of ALelle fr

270 We also identified a heterozygous splice site variant in the nuclear envelope

271 We used heterozygous St14 hypomorphic mice expressing a promoter

272 the most damaging recessive mutations in the heterozygous state but have been unable to purge the mut

273 l mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function

274 the Pik3ca (H1047R) hotspot mutation in the heterozygous state from its endogenous locus, we here re

275 s, whereas it has a protective effect in the heterozygous state.

276 individuals, and these were more often in a heterozygous state.

277 man Abeta variants, i.e. A2T and A2V, in the heterozygous state.

278 We generated heterozygous STING N153S knock-in mice as a model of SAV

279 loids, we find that approximately 59% of the heterozygous SVs are no longer detected by SMRT-SV.

280 body responses were measured in B cells from heterozygous TACI A144E knock-in mice.

281 gside models of pan-cellular or CNS-specific heterozygous Tcf4 disruption.

282 with bone marrow obtained from homozygous or heterozygous Tet2 knockout mice had larger atherosclerot

283 36 subjects were detected to carry heterozygous TGFBI gene mutations.

284 Seven of 10 probands with a compound heterozygous TGM1 genotype had a mutation at either argi

285 phocholine were significantly lower in A181E-heterozygous than TACI-sufficient Swedish blood donors n

286 By whole-exome sequencing, we identified a heterozygous truncating mutation (c.279delG, p.Trp93fs*)

287 we identified five individuals with de novo heterozygous truncating mutations in CIC who share simil

288 Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding pr

289 ion starting at 2.5-7 years, we identified a heterozygous variant, c.628G>A in UBTF, encoding p.Glu21

290 ts for natural read duplicates by leveraging heterozygous variants in an individual genome.

291 Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA3, and COL17A1

292 In all affected subjects we detected novel heterozygous variants in NFKB1, encoding for p50/p105.

293 Here we report heterozygous variants in the gene KMT2B (also known as M

294 ifficult, because of the abundance of benign heterozygous variants that act as massive background noi

295 Validation of 13 heterozygous variants that survived internal quality and

296 ulin resistant patients identified four rare heterozygous variants, including an early nonsense mutat

297 pes in 2 siblings carrying the same compound heterozygous variants, which could be explained by varia

298 similarly reduced in GF WT, Tlr2(-/-) , and heterozygous Vwf(+/-) mice that are all characterized by

299 , a proxy for Wolbachia fitness, produced by heterozygous wasps, and by their recombinant offspring.

300 Male heterozygous zQ175 (Htt(tm1Mfc)/190JChdi, CHDI-81003003)