Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.L581F
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ABCB11

NM_003742.4:p.L581F

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

Cholestasis After Pediatric Liver Transplantation-Recurrence of a Progressive Familial Intrahepatic Cholestasis Phenotype as a Rare Differential Diagnosis: A Case Report.

Prusinskas B et al.

Transplantation Proceedings, 2017

Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report.

Masahata K et al.

Transplantation Proceedings, 2016

Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.

Kubitz R et al.

Clinical Reviews in Allergy & Immunology, 2015

The bile salt export pump (BSEP) in health and disease.

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Recurrence of bile salt export pump deficiency after liver transplantation.

Jara P et al.

The New England Journal of Medicine, 2009

Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.

Grotra R et al.

Journal of Clinical and Experimental Hepatology, 0

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