Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V864G
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ATP7B

NM_000053.4:p.V864G

Associated Papers

Wilson's disease in Sardinian population: The experience of a pediatric referral center.

Loudianos G et al.

Journal of Pediatric Gastroenterology and Nutrition, 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

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

Lepori MB et al.

Molecular and Cellular Probes, 2012

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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."