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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP8B1

Variant:p.K504fs

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ATP8B1

NM_001374385.1:p.K504fs

hg38:chr18:57684156 CTT>N

Associated Papers

A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators.

Li Q et al.

Biology, 2021

33557414 (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."