Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V1239F
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ATP7B

NM_000053.4:p.V1239F

Associated Papers

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Calvo JS et al.

Human Mutation, 2025

A novel mutation in the ATP7B gene causing hepatolenticular degeneration in a Chinese family: A case report.

Zhou Z et al.

Medicine, 2024

Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.

Fan SP et al.

Journal of Movement Disorders, 2023

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Li M et al.

Bmc Gastroenterology, 2021

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y et al.

Theranostics, 2016

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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."