Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.P57S
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ATP8B1

NM_001374385.1:p.P57S

Associated Papers

Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child.

Porta G et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

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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."