Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K1028fs
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ATP7B

NM_000053.4:p.K1028fs

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

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.

Woimant F et al.

Molecular Genetics & Genomic Medicine, 2020

High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.

Collet C et al.

Bmc Medical Genetics, 2018

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Davies LP et al.

Genetic Testing, 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."