Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.C431S
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ATP7B

NM_000053.4:p.C431S

Associated Papers

Nano-Mediated Molecular Targeting in Diagnosis and Mitigation of Wilson Disease.

Chaturvedi A et al.

Molecular Neurobiology, 2024

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.

Lao TD et al.

Biomarker Insights, 2024

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.

Caca K et al.

Journal of Hepatology, 2001

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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."