Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 7
Results: 17
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics.
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- Human Mutation, 2019, v. 40, n. 7, p. 865, doi. 10.1002/humu.23772
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Heterozygosity mapping for human dominant trait variants.
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- Human Mutation, 2019, v. 40, n. 7, p. 996, doi. 10.1002/humu.23765
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Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus.
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- Human Mutation, 2019, v. 40, n. 7, p. 938, doi. 10.1002/humu.23764
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A snapshot of some pLI score pitfalls.
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- Human Mutation, 2019, v. 40, n. 7, p. 839, doi. 10.1002/humu.23763
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Functional and structural analysis of rare SLC2A2 variants associated with Fanconi‐Bickel syndrome and metabolic traits.
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- Human Mutation, 2019, v. 40, n. 7, p. 983, doi. 10.1002/humu.23758
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PMS2 expression decrease causes severe problems in mismatch repair.
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- Human Mutation, 2019, v. 40, n. 7, p. 904, doi. 10.1002/humu.23756
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Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.
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- Human Mutation, 2019, v. 40, n. 7, p. 899, doi. 10.1002/humu.23755
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p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy.
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- Human Mutation, 2019, v. 40, n. 7, p. 926, doi. 10.1002/humu.23754
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A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant.
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- Human Mutation, 2019, v. 40, n. 7, p. 893, doi. 10.1002/humu.23753
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D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
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- Human Mutation, 2019, v. 40, n. 7, p. 975, doi. 10.1002/humu.23751
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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
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- Human Mutation, 2019, v. 40, n. 7, p. 842, doi. 10.1002/humu.23748
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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies.
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- Human Mutation, 2019, v. 40, n. 7, p. 962, doi. 10.1002/humu.23745
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TP63‐truncating variants cause isolated premature ovarian insufficiency.
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- Human Mutation, 2019, v. 40, n. 7, p. 886, doi. 10.1002/humu.23744
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Identification of a p.Trp403* nonsense variant in PHEX causing X‐linked hypophosphatemia by inhibiting p38 MAPK signaling.
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- Human Mutation, 2019, v. 40, n. 7, p. 879, doi. 10.1002/humu.23743
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SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
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- Human Mutation, 2019, v. 40, n. 7, p. 908, doi. 10.1002/humu.23731
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Screening for rare epigenetic variations in autism and schizophrenia.
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- Human Mutation, 2019, v. 40, n. 7, p. 952, doi. 10.1002/humu.23740
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Issue Information.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 835, doi. 10.1002/humu.23574
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- Article