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Cover Image, Volume 39, Issue 8.
- Published in:
- Human Mutation, 2018, v. 39, n. 8, p. i, doi. 10.1002/humu.23587
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- Article
Issue Information.
- Published in:
- Human Mutation, 2018, v. 39, n. 8, p. 1025, doi. 10.1002/humu.23329
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- Article
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.
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- Human Mutation, 2018, v. 39, n. 8, p. 1029, doi. 10.1002/humu.23545
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ClinVar Miner: Demonstrating utility of a Web‐based tool for viewing and filtering ClinVar data.
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- Human Mutation, 2018, v. 39, n. 8, p. 1051, doi. 10.1002/humu.23555
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Improved, ACMG‐compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants.
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- Human Mutation, 2018, v. 39, n. 8, p. 1061, doi. 10.1002/humu.23553
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De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
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- Human Mutation, 2018, v. 39, n. 8, p. 1070, doi. 10.1002/humu.23550
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- Article
Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function.
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- Human Mutation, 2018, v. 39, n. 8, p. 1076, doi. 10.1002/humu.23554
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- Article
Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels.
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- Human Mutation, 2018, v. 39, n. 8, p. 1081, doi. 10.1002/humu.23548
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Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.
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- Human Mutation, 2018, v. 39, n. 8, p. 1092, doi. 10.1002/humu.23549
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A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia.
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- Human Mutation, 2018, v. 39, n. 8, p. 1102, doi. 10.1002/humu.23551
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- Article
Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.
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- Human Mutation, 2018, v. 39, n. 8, p. 1112, doi. 10.1002/humu.23552
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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
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- Human Mutation, 2018, v. 39, n. 8, p. 1126, doi. 10.1002/humu.23557
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- Article
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.
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- Human Mutation, 2018, v. 39, n. 8, p. 1139, doi. 10.1002/humu.23556
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- Article