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
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J et al.
Scientific Reports, 2023
A dominant vimentin variant causes a rare syndrome with premature aging.
Cogné B et al.
European Journal of Human Genetics : Ejhg, 2020
32066935 (PubMed )
Supplement: 41431_2020_583_MOESM3_ESM.xlsx › Feuil1
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