Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A1
Variant:p.S199R
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SLC10A1

NM_003049.4:p.S199R

Associated Papers

Enteronephrohepatic circulation of bile acids and therapeutic potential of systemic bile acid transporter inhibitors.

Ghallab A et al.

Journal of Hepatology, 2025

Structural basis of sodium-dependent bile salt uptake into the liver.

Goutam K et al.

Nature, 2022

Sodium taurocholate co-transporting polypeptide deficiency.

Schneider AL et al.

Clinics and Research in Hepatology and Gastroenterology, 2022

Molecular Epidemiology of Na+-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1.

Li H et al.

Frontiers in Genetics, 2022

De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report.

Liu HY et al.

World Journal of Clinical Cases, 2021

Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.

Deng LJ et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2021

Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg).

Li H et al.

Molecular Medicine Reports, 2019

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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."