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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP8B1

Variant:p.P23L

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ATP8B1

NM_001374385.1:p.P23L

hg38:chr18:57731740 G>A

Associated Papers

Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.

Nayagam JS et al.

Alimentary Pharmacology & Therapeutics, 2020

33070363 (PubMed )

Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.

Vitale G et al.

Journal of Gastroenterology, 2018

29238877 (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."