Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P767insFs
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ATP7B

NM_000053.4:p.P767insFs

Associated Papers

Management of Wilson Disease Diagnosed in Infancy: An Appraisal of Available Experience to Generate Discussion.

Valentino PL et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

Hepatic steatosis in Wilson disease--Role of copper and PNPLA3 mutations.

Stättermayer AF et al.

Journal of Hepatology, 2015

Wilson's disease and other neurological copper disorders.

Bandmann O et al.

The Lancet. Neurology, 2015

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.

Nicastro E et al.

Hepatology (baltimore, Md.), 2010

Haplotype and mutation analysis in Greek patients with Wilson disease.

Loudianos G et al.

European Journal of Human Genetics : Ejhg, 0

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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."