Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.R652G
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ATP8B1

NM_001374385.1:p.R652G

Associated Papers

Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.

Sharma A et al.

Bmc Gastroenterology, 2018

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.

Dröge C et al.

Journal of Hepatology, 2017

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

A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.

Sharma A et al.

Indian Pediatrics, 2016

MDR3 mutation analysis: A step closer to precision medicine.

Bezerra JA

Hepatology (baltimore, Md.), 2016

ABCB4 sequence variations in young adults with cholesterol gallstone disease.

Nakken KE et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2009

Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy.

Floreani A et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2008

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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."