Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q963delFs
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ATP7B

NM_000053.4:p.Q963delFs

Associated Papers

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

Xiao Z et al.

Molecular Genetics & Genomic Medicine, 2021

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

29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx

Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

Gu YH et al.

Clinical Genetics, 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."