Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.I516M
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ABCB11

NM_003742.4:p.I516M

Associated Papers

An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.

Bell EL et al.

Journal of Lipid Research, 2025

40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1

Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.

Pfister ED et al.

Hepatology Communications, 2023

Nasobiliary drainage prior to surgical biliary diversion in progressive familial intrahepatic cholestasis type II.

Jannone G et al.

European Journal of Pediatrics, 2020

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

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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."