Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q914*
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ATP7B

NM_000053.4:p.Q914*

Associated Papers

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

Li M et al.

Bmc Gastroenterology, 2021

Wilson's Disease in China.

Xie JJ et al.

Neuroscience Bulletin, 2017

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

Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

Wu ZY et al.

Archives of Neurology, 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."