Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.H251fs
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ATP7B

NM_000053.4:p.H251fs

Associated Papers

Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

Huong NTM et al.

Molecular Genetics and Metabolism Reports, 2022

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

Huong NTM et al.

Bmc Medical Genetics, 2018

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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."