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

Association of variants of ABCB11 with transient neonatal cholestasis.

Liu LY et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2013

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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."