Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A1263delFs
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ATP7B

NM_000053.4:p.A1263delFs

Associated Papers

Prevalence of Wilson disease based on genome databases in Japan.

Yamaguchi H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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

Acute Hepatic Phenotype of Wilson Disease: Clinical Features of Acute Episodes and Chronic Lesions Remaining in Survivors.

Hayashi H et al.

Journal of Clinical and Translational Hepatology, 2015

Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.

Tatsumi Y et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2011

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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."