Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.E504K
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ABCB11

NM_003742.4:p.E504K

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

[Relationship between phenotype and genotype of ABCB11 deficiency in siblings and literature review].

Peng XR et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018

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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."