Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.G319R
Back to variants list

ABCB4

NM_000443.4:p.G319R

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

Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.

Zhang W et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."