Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.Y328*
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ABCB4

NM_000443.4:p.Y328*

Associated Papers

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

Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.

Boga S et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2015

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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."