Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.G562S
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ABCB11

NM_003742.4:p.G562S

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

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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