Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.R46*
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ATP8B1

NM_001374385.1:p.R46*

Associated Papers

Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.

Liu LY et al.

Journal of Pediatric Gastroenterology and Nutrition, 2010

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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."