Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.I694T
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ATP8B1

NM_001374385.1:p.I694T

Associated Papers

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

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

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Klomp LW et al.

Hepatology (baltimore, Md.), 2004

A sporadic case of benign recurrent intrahepatic cholestasis in a growth-impaired young male.

Shao J et al.

Science Progress, 0

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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."