Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V176fs
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ATP7B

NM_000053.4:p.V176fs

Associated Papers

Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.

Xie YQ et al.

Gene, 2026

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.

Xiao Z et al.

Molecular Genetics & Genomic Medicine, 2021

Recurrent stroke-like episodes of Wilson disease with a novel Val176fs mutation.

Pan L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

Wang LH et al.

Journal of Human Genetics, 2011

Six novel ATP7B mutations in Thai patients with Wilson disease.

Panichareon B et al.

European Journal of Medical Genetics, 0

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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."