Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V446L
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ATP7B

NM_000053.4:p.V446L

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Clinical and genetic analysis of pediatric patients with Wilson disease.

Şimşek Papur Ö et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2015

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.

Simsek Papur O et al.

European Journal of Medical Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."