Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.A93_N94Splc
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ATP8B1

NM_001374385.1:p.A93_N94Splc

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

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

van der Woerd WL et al.

Hepatology (baltimore, Md.), 2015

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Klomp LW et al.

Hepatology (baltimore, Md.), 2004

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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."