Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.S406delFs
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ATP7B

NM_000053.4:p.S406delFs

Associated Papers

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

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

Weiss KH et al.

Journal of Inherited Metabolic Disease, 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."