Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q1200*
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ATP7B

NM_000053.4:p.Q1200*

Associated Papers

Use of Estonian Biobank data and participant recall to improve Wilson's disease management.

Nurm M et al.

European Journal of Human Genetics : Ejhg, 2025

39674827 (PubMed )
Supplement: 41431_2024_1767_MOESM2_ESM.pdf

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

Liu G et al.

Bmc Medical Genetics, 2018

Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.

Chappuis P et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2007

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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."