Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.M769L
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ATP7B

NM_000053.4:p.M769L

Associated Papers

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.

Folhoffer A et al.

European Journal of Gastroenterology & Hepatology, 2007

[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].

Folhoffer A et al.

Orvosi Hetilap, 2003

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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."