Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P1273S
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ATP7B

NM_000053.4:p.P1273S

Associated Papers

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.

Djebrani-Oussedik N et al.

Jhep Reports : Innovation in Hepatology, 2025

40980162 (PubMed )
Supplement: mmc1.pdf

In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.

Squitti R et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014

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."