Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.W1071_D1072Splc
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ABCB11

NM_003742.4:p.W1071_D1072Splc

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

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.

Li LT et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang NL et al.

Plos One, 2016

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