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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP8B1

Variant:p.K520*

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ATP8B1

NM_001374385.1:p.K520*

hg38:chr18:57684108 T>A

Associated Papers

Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature.

Piazzolla M et al.

World Journal of Hepatology, 2020

32184942 (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."