Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.E283D
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ABCB11

NM_003742.4:p.E283D

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

Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.

Liu T et al.

Annals of Translational Medicine, 2020

Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.

Liu T et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2018

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

Wang NL et al.

Plos One, 2016

Hypothyroidism Associated with ATP8B1 Deficiency.

Li L et al.

The Journal of Pediatrics, 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."