Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.R303G
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ABCB11

NM_003742.4:p.R303G

Associated Papers

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

Khabou B et al.

Annals of Human Genetics, 2024

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

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

Kubitz R et al.

Clinical Reviews in Allergy & Immunology, 2015

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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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."