Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.P474L
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ABCB11

NM_003742.4:p.P474L

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

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.

Lipiński P et al.

Frontiers in Pediatrics, 2020

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