Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.D459G
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ABCB4

NM_000443.4:p.D459G

Associated Papers

Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis.

Liu T et al.

Journal of Clinical and Translational Hepatology, 2024

A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.

Khabou B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.

Khabou B et al.

The International Journal of Biochemistry & Cell Biology, 2017

Chinese children with chronic intrahepatic cholestasis and high γ-glutamyl transpeptidase: clinical features and association with ABCB4 mutations.

Fang LJ et al.

Journal of Pediatric Gastroenterology and Nutrition, 2012

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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."