Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.D617fs
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ATP7B

NM_000053.4:p.D617fs

Associated Papers

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

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.

Jang JH et al.

Journal of Human Genetics, 2017

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."