Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.E456Q
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CP

NM_000096.4:p.E456Q

Associated Papers

Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.

Song D et al.

Human Molecular Genetics, 2022

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.

Simsek Papur O et al.

European Journal of Medical Genetics, 2013

Six novel ATP7B mutations in Thai patients with Wilson disease.

Panichareon B et al.

European Journal of Medical Genetics, 0

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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."