Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.M1025R
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ATP7B

NM_000053.4:p.M1025R

Associated Papers

Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.

Huang C et al.

Journal of Clinical Laboratory Analysis, 2022

Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.

Mak CM et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

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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."