Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 1
Results: 15
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.
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- Human Mutation, 2019, v. 40, n. 1, p. 31, doi. 10.1002/humu.23671
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- Article
IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy.
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- Human Mutation, 2019, v. 40, n. 1, p. 5, doi. 10.1002/humu.23670
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Disease‐causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs.
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- Human Mutation, 2019, v. 40, n. 1, p. 48, doi. 10.1002/humu.23680
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Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
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- Human Mutation, 2019, v. 40, n. 1, p. 42, doi. 10.1002/humu.23675
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Allele balance bias identifies systematic genotyping errors and false disease associations.
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- Human Mutation, 2019, v. 40, n. 1, p. 115, doi. 10.1002/humu.23674
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Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis.
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- Human Mutation, 2019, v. 40, n. 1, p. 97, doi. 10.1002/humu.23673
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Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
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- Human Mutation, 2019, v. 40, n. 1, p. 106, doi. 10.1002/humu.23678
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Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
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- Human Mutation, 2019, v. 40, n. 1, p. 36, doi. 10.1002/humu.23676
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Analysis of the TTR gene in the investigation of amyloidosis: A 25‐year single UK center experience.
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- Human Mutation, 2019, v. 40, n. 1, p. 90, doi. 10.1002/humu.23669
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Framework for microRNA variant annotation and prioritization using human population and disease datasets.
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- Human Mutation, 2019, v. 40, n. 1, p. 73, doi. 10.1002/humu.23668
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Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.
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- Human Mutation, 2019, v. 40, n. 1, p. 25, doi. 10.1002/humu.23667
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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
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- Human Mutation, 2019, v. 40, n. 1, p. 53, doi. 10.1002/humu.23666
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Autosomal recessive primary microcephaly due to ASPM mutations: An update.
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- Human Mutation, 2019, v. 40, n. 1, p. 127, doi. 10.1002/humu.23617
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- Article
Issue Information.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 1, doi. 10.1002/humu.23568
- Publication type:
- Article
Cover Image, Volume 40, Issue 1.
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- Human Mutation, 2019, v. 40, n. 1, p. i, doi. 10.1002/humu.22891
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- Article