Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.A257G
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ATP8B1

NM_001374385.1:p.A257G

Associated Papers

A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.

Stindt J et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2013

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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."