ライフサイエンスコーパス: heterozygous

1 NPM1 mutations are always heterozygous.

2 Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 diff

3 Germline heterozygous ablation of exon 5 increases BAK1 proteins

4 Heterozygous adult mice showed increased SAN recovery ti

5 Heterozygous adults displayed susceptibility to induced

6 Aip+/- mice were compared with double heterozygous Aip+/-, Prkar1a+/- mice.

7 From the two closest heterozygous alleles around the crossovers, we determine

8 a model for ribosomal diseases, related to a heterozygous allelic variation in 1 of the 20 ribosomal

9 We sequenced the genome of the highly heterozygous almond Prunus dulcis cv. Texas combining sh

10 te-specific ALR-knockout (ALR-H-KO), and ALR-heterozygous (ALR-H-HET) mice.

11 omozygous mutations (8/10), while a compound heterozygous and a monoallelic genotype were identified

12 ipheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRN

13 mote therapeutic correction of both compound heterozygous and dominant negative mutations associated

14 nes by generating each combination of double heterozygous and double homozygous mutants.

15 Here, we conducted genomic analyses of heterozygous and homozygous Chd8 mouse embryonic stem ce

16 We compared both heterozygous and homozygous D252H and null mutant mice u

17 Heterozygous and homozygous R405W-desmin knock-in mice d

18 Juxtaposition of megabase heterozygous and homozygous regions causes crossover rem

19 The heterozygous and homozygous Sik2(S587A) mice showed incr

20 hological and biochemical assessment of Akt2 heterozygous and knockout genetic deletion in mouse, rev

21 Hybrids are heterozygous and segregate for genotype and phenotype up

22 The daughters were heterozygous and the mother was a somatic mosaic for a n

23 er, the majority of WD patients are compound-heterozygous, and how different mutations on two alleles

24 Heterozygous animals facilitate conversion of different

25 t B6.Y (POS) sex reversal in a proportion of heterozygous animals through its positive and negative e

26 marily normal sarcomere structures in female heterozygous animals, whereas Z-band streaming could be

27 Three different heterozygous ASPRV1 missense mutations in four unrelated

28 , we estimated the percentage of humans with heterozygous atopy risk mutations.

29 by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-funct

30 a cardiomyocyte-specific Cx43 (connexin 43) heterozygous background.

31 Mosaic or heterozygous Bccip deletion conferred an increased risk

32 NA, a precursor to the 5.8S rRNA. However, a heterozygous Bccip loss was insufficient to impair 60S b

33 In the HD mouse model, heterozygous Bim knockout significantly mitigates mHTT a

34 in retinas of developing Xenopus tropicalis heterozygous, but not homozygous mutant tadpoles.

35 Affected individuals carry a heterozygous c.1568T>C (p.Leu523Pro) KIF3B variant segre

36 related Caucasian patients with an identical heterozygous c.388G>A, p.Gly130Arg variant, occurring de

37 vere, early-onset autoimmunity; we show that heterozygous carriage of an African-predominant LRBA pro

38 Heterozygous carrier frequencies for multiple MEFV mutat

39 ic expression of this mutation in a compound heterozygous carrier.

40 Up to 37% of individuals may be heterozygous carriers for at least one dominant atopy ri

41 ping the 3' untranslated region of LDLR in 7 heterozygous carriers from a single family.

42 than in individuals with a CC genotype, and heterozygous carriers had intermediate expression.

43 sease heterogeneity in both MVA patients and heterozygous carriers of MVA mutations.

44 cell-free mtDNA concentrations in unaffected heterozygous carriers of PRKN/PINK1 mutations were compa

45 heterozygous mutations and from asymptomatic heterozygous carriers released heightened IL-1beta speci

46 ts heritability and confirms that pathogenic heterozygous CASQ2 variants may manifest with a CPVT phe

47 t LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with

48 In several fish species homozygous and heterozygous clonal lines have been produced using gynog

49 and genome stability were maintained in all heterozygous clones.

50 Mice harboring heterozygous CMT2-associated mutations exhibited mild pe

51 ng a reverse phenotyping approach, we report heterozygous coding variations in the core circadian clo

52 ozygous colonies; and (2) establishment of a heterozygous colony to generate C6 WT and C6-D littermat

53 ome, we obtain ~ 90% imputation accuracy for heterozygous common variants at coverage 0.05 x and > 97

54 ights and relatively lower thymus weights in heterozygous compared with wild-type animals.

55 the heterozygous condition, and the compound heterozygous condition of hemoglobin S with pancellular

56 position also explains why sickle trait, the heterozygous condition, and the compound heterozygous co

57 developing brain were assessed by creating a heterozygous conditional knock out (het CKO) murine mode

58 , c.1282-1G > A, c.1601C > G; p.S534* and an heterozygous copy number loss encompassing exons 15 to 1

59 inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations ca

60 Here we show that by re-assembling a heterozygous dataset with variant parameters and differe

61 We report on 39 individuals with heterozygous de novo CNOT1 variants, including missense,

62 ification of nine unrelated individuals with heterozygous de novo missense variants in EIF2AK1 (1/9)

63 Here, we study three individuals with heterozygous de novo missense variants in KAT5 that affe

64 rt two pediatric probands who carry damaging heterozygous de novo mutations in CAPZA2 (HGNC: 1490) an

65 Heterozygous de novo mutations in EEF1A2, encoding the t

66 551 individuals with CAKUT and identified a heterozygous de novo stop-gain variant in ZMYM2 in two d

67 known VEOIBD variants, to identify compound heterozygous deleterious variants in the Ubiquitin prote

68 We now demonstrate that Synj1 heterozygous deletion (Synj1+/-), which is associated wi

69 LgDel mice, which model the heterozygous deletion of genes at human chromosome 22q11

70 We previously reported that heterozygous deletion of Syngap1 in mice is correlated w

71 Heterozygous deletion of the p21(WAF1/CIP1) gene allevia

72 ous loss of function mutations, though large heterozygous deletions are known to be compatible with l

73 We report that although the heterozygous depletion of the autophagy adaptor protein

74 In this study, we used heterozygous Disc1 mutant (Het) mice to evaluate the DIS

75 Here, we demonstrated striatal phenotypes in heterozygous Disc1 mutant mice, which could be a promisi

76 Females with heterozygous DKC1 p.Glu206Lys developed cataracts and se

77 s, we demonstrate that purge_dups can reduce heterozygous duplication and increase assembly continuit

78 junction fragment indicated that these 67 kb heterozygous duplications were likely mediated by non-al

79 Megf8 or Mgrn1 mutations were normal, double heterozygous embryos exhibited an incompletely penetrant

80 Moreover, heterozygous embryos sired by pi6(-/-) fathers show redu

81 d developmental anomalies in a proportion of heterozygous embryos, suggestive of a dominant mode of i

82 plasia and numerous surface defects, whereas heterozygous enamel displayed highly variable mosaic str

83 Both male and female C57BL/6 wild-type, heterozygous EphA4(+/-), and homozygous EphA4(-/-) mice

84 Compared with non-epsilon4 carriers, heterozygous epsilon4 carriers had a 4.6 (95% confidence

85 Heterozygous expression of CARD14(E138A) rapidly induced

86 Its effects in pediatric patients with heterozygous familial hypercholesterolemia are not known

87 assigned, in a 1:1 ratio, 482 adults who had heterozygous familial hypercholesterolemia to receive su

88 trial, we enrolled patients with or without heterozygous familial hypercholesterolemia who had refra

89 Among adults with heterozygous familial hypercholesterolemia, those who re

90 ety of evolocumab in pediatric patients with heterozygous familial hypercholesterolemia.

91 it hepatic synthesis of PCSK9 in adults with heterozygous familial hypercholesterolemia.

92 Fifty-one of 66 CASQ2 heterozygous family members had undergone clinical evalu

93 decreased flying and climbing abilities, in heterozygous female flies.

94 entified to cause X-linked ID in males, with heterozygous females typically having normal intelligenc

95 atients with homozygous FH (HoFH) and severe heterozygous FH (HeFH).

96 ed papers and conference abstracts reporting heterozygous FH prevalence in nonfounder populations, re

97 Three-week-old mice heterozygous for a loss-of-function mutation in forkhead

98 s with multiple trichilemmal cysts were also heterozygous for a p.S460L (c.1379 G > A) germline varia

99 of colorectal cancer (CRC) patients who are heterozygous for a wild-type and a low activity allele (

100 No offspring that was heterozygous for both Cre and the conditional allele (be

101 them, 14 were homozygous and 3 were compound heterozygous for CTNS mutations.

102 etic Abeta oligomers in male and female mice heterozygous for either a PME-1 KO or an LCMT-1 gene-tra

103 (21%) with sickle cell trait (HbAS), 34 (1%) heterozygous for HbA and HbC (HbAC), and 2774 (77%) with

104 with sickle cell anaemia (HbSS), four (<1%) heterozygous for HbS and HbC (HbSC), 740 (21%) with sick

105 as homozygous for HLA-A, HLA-B, and DRB1 and heterozygous for HLA-DPB type.

106 While mice heterozygous for loss-of-function Megf8 or Mgrn1 mutatio

107 Studying a sibling pair that is compound heterozygous for mutations in RLBP1/CRALBP, here we expa

108 was significantly reduced in infected cells heterozygous for PIEZO1 756del, a phenomenon that has be

109 donor blood samples, we show that red cells heterozygous for PIEZO1 E756del are not dehydrated and c

110 cytes (Podxl(DeltaPod)) and a second that is heterozygous for podocalyxin in all tissues (Podxl(+/-))

111 vel of 0.23 mg/L, in contrast to individuals heterozygous for rs181704186 with mean CRP of 2.97 mg/L

112 Ovariectomized mice heterozygous for the BDNF Met allele (Het-Met) and their

113 nd to be clinically affected, and 23.6% were heterozygous for the insertion and were clinically healt

114 The number of dogs homozygous and heterozygous for the insertion declined rapidly after th

115 Mice that are heterozygous for the missense mutation show no behaviour

116 Mice heterozygous for the RE deletion showed bradycardia, sin

117 iency prevented tumours forming in aged mice heterozygous for the tumour suppressor p53.

118 Two individuals were heterozygous for variants in MYO7A and CHD7, respectivel

119 variants (1 homozygous, 5 hemizygous, and 35 heterozygous) found in 35/176 (20%) patients, including

120 ing whole genome sequencing, we identified a heterozygous frameshift variant (p.Ser117HisfsTer10) in

121 Samples from heterozygous (G(96)/S(96)) white-tailed deer orally dose

122 ory disease caused by homozygous or compound heterozygous gain-of-function mutations in MEFV, which e

123 sion tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonis

124 affected individuals uncovered four distinct heterozygous GBF1 variants, two of which occurred de nov

125 In heterozygous genomes, allele-specific measurements can r

126 r STAT1 expression than islets harboring the heterozygous genotype (rs917997*CT).

127 The heterozygous genotype of the TLR2 2029C/T SNP was more c

128 Heterozygous genotypes of the TLR2 2029C/T and TLR3 1377

129 ced transmission in female gametophytes, and heterozygous genotypes triggered higher HI rates than ho

130 We identified 127 rare variants across 168 heterozygous genotypes.

131 We identified heterozygous germline mutations in the G protein-coupled

132 malformation syndrome in whom we identified heterozygous germline or mosaic missense variants in PRK

133 Heterozygous GJA1M213L/WT mice survived to adulthood wit

134 (Arabidopsis thaliana) gpt2 mutants, whereas heterozygous gpt1 mutants exhibited a variety of defects

135 Complementation analyses of heterozygous +/gpt1 plants demonstrated that GPT2 is una

136 We found that DIMT1 (+/-) heterozygous HEK 293T cells have a significantly decreas

137 Results - Heterozygous, high impact, likely loss-of-function varia

138 NMDA receptor-mediated synaptic currents in heterozygous hippocampal slices also showed a prolonged

139 genotypes: Homozygous Hp 1-1 and Hp 2-2, and heterozygous Hp 2-1.

140 + mice were examined and compared with IL-33 heterozygous (IL-33(HET)) Tg+ mice.

141 olve a non-recombining region that is always heterozygous in males (Y) or females (W), sometimes losi

142 In patients, all Fus mutations are heterozygous, indicating that the mutant drives disease

143 egated with increased nicotine preference in heterozygous individuals.

144 However, homozygous-resistant and heterozygous insects were able to survive and emerge as

145 Video-EEG monitoring of heterozygous Kcnt1(+/R455H) animals revealed persistent

146 Using exome sequencing, we identified heterozygous KIF3B variants in two unrelated families wi

147 Moreover, whereas heterozygous knock-in mice have a normal life span, homo

148 Heterozygous knock-in of the mutations or deletion of on

149 Mice with heterozygous knock-in of the SERCA C674S mutation were s

150 erozygous NR2F1 mutations, we investigated a heterozygous knockout mouse model and found that this mo

151 Combined heterozygous knockout of Dll4 and Fgf8 demonstrates gene

152 ased ascertainment of homozygous or compound heterozygous 'knockout' humans will await sample sizes t

153 Heterozygous knockouts of L. donovani HSP78 (LdHSP78+/-)

154 Moreover, the patients' heterozygous leukocytes and fibroblasts respond poorly t

155 In summary, our data show that heterozygous, likely gene-disrupting variants in SCAF4 a

156 Deletion or heterozygous loss of Bap1 in murine pancreata causes gen

157 Heterozygous loss of DGCR8 recapitulated the excitabilit

158 chamber of the eye; additionally, fish with heterozygous loss of foxc1a combined with homozygosity f

159 We find that heterozygous loss of histone H2A lysine 119 deubiquitina

160 Heterozygous loss of human PAFAH1B1 (coding for LIS1) re

161 We identified predicted heterozygous loss-of-function CASR variants (6 different

162 y provides a framework for understanding how heterozygous loss-of-function mutations in histone-modif

163 oration, we identified in total 14 different heterozygous loss-of-function mutations in ZMYM2 in 15 u

164 A total of 18 individuals harboring heterozygous loss-of-function VPS16 variants, and one wi

165 Female heterozygous Mecp2 mutants (Mecp2(het) ) failed to acqui

166 DNA binding-deficient global Mef2c heterozygous mice (Mef2c-Het) displayed numerous MCHS-re

167 Heterozygous mice also develop pancreatic cancer suggest

168 As Atad5 heterozygous mice are cancer-prone and as ATAD5 mutation

169 gh homozygous deletion of Poldip2 is lethal, heterozygous mice are viable and show protection against

170 EF2C, and DNA binding-deficient Mef2c global heterozygous mice display numerous MCHS-related phenotyp

171 Heterozygous mice for the G90D mutation did not exhibit

172 cies arising in NrasG12D/G12D,C181S compound heterozygous mice invariably acquired revertant mutation

173 In addition, Cyp17a1 heterozygous mice were also backcrossed onto an Apoe KO

174 In contrast to control and heterozygous mice, Depdc5-Emx1-Cre conditional knockout

175 ventricular bundle hypoplasia after birth in heterozygous mice.

176 atterns were similar for both homozygous and heterozygous mice.

177 cases of KID syndrome (86%) are caused by a heterozygous missense mutation (c.148G>A, p.D50N) in the

178 es of 2 siblings with IMD identified a novel heterozygous missense mutation in BPIFA1/SPLUNC1.

179 We identified a heterozygous missense mutation in PYGM segregating with

180 A heterozygous missense mutation, c.2185G->A (p.G729R), in

181 Here we show that the heterozygous missense mutations D324N, D324H and D324Y p

182 Heterozygous missense mutations in coatomer protein subu

183 Somatic heterozygous missense mutations in PPP2R1A, the gene enc

184 Here, we identified heterozygous missense mutations in single-strand binding

185 Heterozygous missense mutations in syt1 have recently be

186 hole exome sequencing revealed a rare shared heterozygous missense variant in the F13A1 gene encoding

187 Frequently found heterozygous missense variants located within the homeod

188 Previously reported compound heterozygous MMP20 mutations [NM_004771.3:c.103A>C, p.(A

189 ] 1.23 [95% CI 1.17-1.30], p=2.68 x 10(-15); heterozygous model p=1.01 x 10(-135)), STX6 (rs3747957;

190 rain anatomy and behavior through an in vivo heterozygous mouse model (Kdm4b(+/-)), focusing on neuro

191 aired hippocampal synaptic plasticity in the heterozygous mouse model sheds light on the pathophysiol

192 We identified three patients with heterozygous MPP5 de novo variants (DNV) and global deve

193 increase in foxc1a levels in homozygous and heterozygous mutant eyes, suggesting a mechanism for fox

194 Homozygous and heterozygous mutant mice exhibited altered hippocampal m

195 disease was only evident in homozygous, not heterozygous, mutant mice.

196 ilial Mediterranean fever, MEFV showed E148Q heterozygous mutation in exon 2.Since an adult case of P

197 Brain imaging studies in patients with a heterozygous mutation in FOXP2 showed abnormalities in c

198 In humans, a rare heterozygous mutation in IL-17F (IL-17F.S65L) was identi

199 ed that mice (both females and males) with a heterozygous mutation in the first coding exon of Hnrnph

200 exome sequencing, we identified 4 novel LRP6 heterozygous mutations (c.2292G>A, c.195dup, c.1095dup,

201 ts with FMF harboring homozygous or compound heterozygous mutations and from asymptomatic heterozygou

202 We identify 13 heterozygous mutations in AGO2 in 21 patients affected b

203 We created 2 mouse models of vEDS that carry heterozygous mutations in Col3a1 that encode glycine sub

204 Heterozygous mutations in FH are associated with complem

205 Rationale: Recently, rare heterozygous mutations in GDF2 were identified in patien

206 Heterozygous mutations in KMT2B are associated with an e

207 eport a cause of NKD resulting from compound heterozygous mutations in minichromosomal maintenance co

208 Heterozygous mutations in NFKB1 were associated with com

209 iduals from 19 families and found additional heterozygous mutations in nuclear genes interacting with

210 l Dotto et al. and Piro-Megy et al. identify heterozygous mutations in nuclear-encoded mitochondrial

211 providing functional evidence for a role of heterozygous mutations in PRKN or PINK1 as Parkinson's d

212 he comparison of patients with biallelic and heterozygous mutations in PRKN/PINK1 suggests a gene dos

213 ominant connective tissue disorder caused by heterozygous mutations in the COL3A1 gene, which encodes

214 Heterozygous mutations in the gene encoding progranulin

215 Recently, two de novo heterozygous mutations in the gene encoding TRPM3, a cal

216 Compound-heterozygous mutations in the nebulin gene (NEB) cause t

217 ndrome is a developmental disorder caused by heterozygous mutations in the X-linked BCL-6 corepressor

218 Therefore, NPC1 heterozygous mutations may account for a substantial and

219 o ameliorate some genetic diseases caused by heterozygous mutations or autosomal dominant mutations.

220 ion of exons 7, 8, or both, or with compound heterozygous mutations were eligible for inclusion and r

221 yltransferase activity by ~80% in cells with heterozygous mutations, causing a focal, canonical DNA h

222 Following the appearance of heterozygous mutations, the strong stimulation of LOHs i

223 len cell patterning mutants and isolated the heterozygous myb81-1 mutant that sheds ~50% abnormal pol

224 We screened mice carrying homozygous and heterozygous N-ethyl-N-nitrosourea (ENU)-induced germlin

225 uated 231 individuals harboring 105 distinct heterozygous NFKB1 variants.

226 at 2.5 years of age and identified compound heterozygous nonsense mutations in TMPRSS9, which encode

227 Whole-exome sequencing identified a heterozygous nonsynonymous variant (c.2324C > T) in the

228 We observed four heterozygous, nonsynonymous variants in transient recept

229 , and we termed this model Notch2(tm1.1Ecan) Heterozygous Notch2(tm1.1Ecan) mutant mice exhibit sever

230 disease more accurately, which is caused by heterozygous NR2F1 mutations, we investigated a heterozy

231 Fewer Wbp11 heterozygous null mice are found than expected due to em

232 Importantly, Wbp11 heterozygous null mice are small and exhibit defects in

233 erefore, we examined the photoreceptors of a heterozygous Opa1 knockout mouse model.

234 individuals of whom 3190 (4.6%) were either heterozygous or homozygous (n=47) carriers of factor V L

235 rve any photoreceptor degeneration in either heterozygous or homozygous animals of either line.

236 , and the sequenced healthy dogs were either heterozygous or homozygous for the wild-type allele.

237 ated that monocytes from individuals who are heterozygous or homozygous for this risk allele produce

238 els of copy number variants when compared to heterozygous or R337H- cells.

239 e structure, and were indistinguishable from heterozygous or wild-type siblings.

240 cally identify and remove both haplotigs and heterozygous overlaps.

241 established from primary patient KCs with a heterozygous p.D50N mutation.

242 lele, with horned cows (pp) and obtained six heterozygous (P(C)p) polled calves.

243 De novo heterozygous pathogenic variants in STXBP1 are among the

244 nist is able to rescue the dominant-negative heterozygous phenotype.

245 In mice with the corresponding heterozygous Pik3cd activating mutation, self-reactive B

246 We show that heterozygous pLoF variants in LRRK2 reduce LRRK2 protein

247 The heterozygous PME-1 KO mice produced normal levels of end

248 We found that heterozygous PME-1 KO mice were resistant to Abeta-induc

249 of HNPP, as have been previously observed in heterozygous Pmp22 mice as well as sural biopsies from p

250 ent families carrying homozygous or compound heterozygous predicted damaging variants in CAPN15.

251 Here, we report novel heterozygous predicted loss-of-function (LoF) and predic

252 vels in both patients with biallelic or with heterozygous PRKN/PINK1 mutations compared to idiopathic

253 's disease and Parkinson's disease linked to heterozygous PRKN/PINK1 mutations, providing functional

254 logy confers benefit similar to constitutive heterozygous PrP knockout.

255 was detected, and significantly fewer Klotho heterozygous pups originated from gcKL knockdown mice th

256 and the deficits stemming from them in male heterozygous Q175 mice, compared to age-matched WT males

257 All eggs from heterozygous queens failed to hatch when they did not in

258 espiration calorimetry in wild-type (WT) and heterozygous R163C (HET) mice over a range of ambient te

259 Heterozygous R163C-RYR1 (HET) MH susceptible mice are us

260 cidate molecular mechanisms initiated by the heterozygous R406W-desmin mutation in the development of

261 lt of restrictive cardiomyopathy caused by a heterozygous R406W-desmin mutation.

262 Compound heterozygous recessive or polygenic diseases could be ad

263 sue (skin) grafts were transplanted into MHC-heterozygous recipients.

264 ons causes crossover remodelling towards the heterozygous regions in wild type Arabidopsis, but not i

265 Heterozygous Ripk1(D325A/+) mice were viable and grossly

266 nd appetitive conditioning, while individual heterozygous rutabaga/+ and octbeta1r/+ flies behave lik

267 Supporting this notion, the double heterozygous rutabaga/+;octbeta1r/+ flies perform poorly

268 nome (NG50) up to 25 Mb and phased ~99.5% of heterozygous sites at 98-99% accuracy, outperforming oth

269 s paired, and multiple individuals sharing a heterozygous SNP as replicates, we formulate ASAS detect

270 cell line derived from a high genetic merit heterozygous stallion.

271 Thus, if V679A and R695H in a heterozygous state caused birth defects, it would be via

272 pe but did not cause immunodeficiency in the heterozygous state.

273 in SORD, in either a homozygous or compound heterozygous state.

274 llowing mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T.

275 variants in both the homozygous and compound-heterozygous states to better understand the genotype-ph

276 We identified a novel heterozygous substitution c.941A>C (p.Tyr314Ser) in the

277 sequencing of infertile males revealed three heterozygous SYCP2 frameshift variants in additional sub

278 rophysiological properties and morphology of heterozygous Tbx3 mutant (Tbx3 (+/-)) mouse hearts.

279 Heterozygous TF deficiency is present in at least 1 in 2

280 Eighty percent of homozygous and 9.1% of heterozygous TGFBI-R124C mice developed a corneal opacit

281 Heterozygous TLR2(+/-) pups from wild-type (WT) or TLR2(

282 Heterozygous TLR2(+/-) pups that were born to and nursed

283 The heterozygous TLR3 genotype 1377C/T and -7C/A SNPs were l

284 Each patient was found to have a unique heterozygous truncation variant in suppressor of cytokin

285 loped a novel knock-in mouse model harboring heterozygous (Tubb4a(D249N/+)) and the homozygous (Tubb4

286 e genome sequencing datasets and haplotyping heterozygous V genes.

287 This heterozygous variant (c.1995delA) truncates the canonica

288 ary undersupply was combined with a maternal heterozygous variant in Haao, which alone does not cause

289 We identified a heterozygous variant, c.388G>A, p.Gly130Arg, in the euka

290 e case, another patient carrying a different heterozygous variant, c.413G>C, p.Gly138Ala, and one las

291 iants were identified, including three novel heterozygous variants (p.R43H, p.P145Lfs*42, and p.P197A

292 c etiology and identified seven (8.97%) with heterozygous variants affecting the fourth zinc finger (

293 Heterozygous variants in MORC2 have been reported in ind

294 hogenic loss-of-function or gain-of-function heterozygous variants in nuclear factor-kappaB2 have bee

295 Whole-exome sequencing identified hemi- and heterozygous variants in the N-terminal domain of the A

296 Heterozygous variants of SETD1A involved in histone H3 l

297 Compound heterozygous variants were detected in most patients (19

298 together, our findings provide evidence that heterozygous variants, likely causing a haploinsufficien

299 Here, we report multiple compound heterozygous WABS cases, each displaying destabilized DD

300 Moreover, heterozygous Zmym2-deficient mice recapitulated features