Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.R525*
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ATP8B1

NM_001374385.1:p.R525*

Associated Papers

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.

Rhee ES et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2019

ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.

Davit-Spraul A et al.

Hepatology (baltimore, Md.), 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."