Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.W164G
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ABCB4

NM_000443.4:p.W164G

Associated Papers

Progressive familial intrahepatic cholestasis 3 Camouflaging as Wilson disease in a 12-year-old: a diagnostic Odyssey.

Panda K et al.

Gastroenterology and Hepatology From Bed to Bench, 2024

ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall.

Sticova E et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2020

The pathophysiology of intrahepatic cholestasis of pregnancy.

Dixon PH et al.

Clinics and Research in Hepatology and Gastroenterology, 2016

Novel heterozygous ABCB4 gene mutation causing recurrent first-trimester intrahepatic cholestasis of pregnancy.

Johnston RC et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2014

Progressive familial intrahepatic cholestasis type 3: overlapping presentation with Wilson disease.

Ramraj R et al.

Clinical Pediatrics, 2012

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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."