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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.K35*

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ATP7B

NM_000053.4:p.K35*

hg38:chr13:51975117 T>A

Associated Papers

Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.

Panzer M et al.

Hepatology Communications, 2022

35271763 (PubMed )

Hepatocyte GP73 expression in Wilson disease.

Wright LM et al.

Journal of Hepatology, 2009

19596473 (PubMed )

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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."