Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1031S
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ATP7B

NM_000053.4:p.T1031S

Associated Papers

Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.

García-Villarreal L et al.

Journal of Gastroenterology, 2021

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

Diverse functional properties of Wilson disease ATP7B variants.

Huster D et al.

Gastroenterology, 2012

Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.

Sazinsky MH et al.

The Journal of Biological Chemistry, 2006

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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."