Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.T593A
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ABCB4

NM_000443.4:p.T593A

Associated Papers

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

Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

Colombo C et al.

Journal of Pediatric Gastroenterology and Nutrition, 2011

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Degiorgio D et al.

European Journal of Human Genetics : Ejhg, 2007

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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."