Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 5
Results: 15
Cover, Volume 42, Issue 5.
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- Human Mutation, 2021, v. 42, n. 5, p. i, doi. 10.1002/humu.24209
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Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
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- Human Mutation, 2021, v. 42, n. 5, p. 592, doi. 10.1002/humu.24189
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Altered DNA repair creates novel Alu/Alu repeat‐mediated deletions.
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- Human Mutation, 2021, v. 42, n. 5, p. 600, doi. 10.1002/humu.24193
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Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B.
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- Human Mutation, 2021, v. 42, n. 5, p. 614, doi. 10.1002/humu.24192
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A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
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- Human Mutation, 2021, v. 42, n. 5, p. 626, doi. 10.1002/humu.24191
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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome.
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- Human Mutation, 2021, v. 42, n. 5, p. 577, doi. 10.1002/humu.24190
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Comprehensive characterization of Alu‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families.
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- Human Mutation, 2021, v. 42, n. 5, p. 520, doi. 10.1002/humu.24194
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Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.
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- Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188
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Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
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- Human Mutation, 2021, v. 42, n. 5, p. 567, doi. 10.1002/humu.24187
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A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons.
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- Human Mutation, 2021, v. 42, n. 5, p. 551, doi. 10.1002/humu.24186
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Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model.
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- Human Mutation, 2021, v. 42, n. 5, p. 530, doi. 10.1002/humu.24183
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Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
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- Human Mutation, 2021, v. 42, n. 5, p. 491, doi. 10.1002/humu.24180
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Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
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- Human Mutation, 2021, v. 42, n. 5, p. 506, doi. 10.1002/humu.24179
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Issue Information.
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- Human Mutation, 2021, v. 42, n. 5, p. 489, doi. 10.1002/humu.24042
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Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1.
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- Human Mutation, 2021, v. 42, n. 5, p. 537, doi. 10.1002/humu.24184
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