Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.R303K
Back to variants list

ABCB11

NM_003742.4:p.R303K

Associated Papers

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

Khabou B et al.

Annals of Human Genetics, 2024

Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.

Chen HL et al.

The Journal of Pediatrics, 2008

Cholestatic Liver Disease due to Novel USP53 Mutations: A Case Series of Three Indian Children.

Samanta A et al.

Journal of Clinical and Experimental Hepatology, 0

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."