Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.Q477K
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ABCB4

NM_000443.4:p.Q477K

Associated Papers

Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.

Sharabati I et al.

Annals of Medicine and Surgery (2012), 2025

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.

Wang S et al.

Scientific Reports, 2024

39521930 (PubMed )
Supplement: 41598_2024_79123_MOESM1_ESM.pdf

Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4.

Zhu H et al.

Frontiers in Pediatrics, 2022

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