Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.Q1058delFs
Back to variants list

ABCB11

NM_003742.4:p.Q1058delFs

Associated Papers

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Felzen A et al.

Jhep Reports : Innovation in Hepatology, 2023

36687469 (PubMed )
Supplement: mmc1.pdf

Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.

Varma S et al.

Hepatology (baltimore, Md.), 2015

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."