Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1281insFs
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ATP7B

NM_000053.4:p.G1281insFs

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

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.

Xiao Z et al.

Molecular Genetics & Genomic Medicine, 2021

Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.

Zhu HW et al.

World Journal of Pediatrics : Wjp, 2017

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.

Merle U et al.

Bmc Gastroenterology, 2010

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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."