Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A1
Variant:p.L205_S206delFs
Back to variants list

SLC10A1

NM_003049.4:p.L205_S206delFs

Associated Papers

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 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

Intrahepatic Cholestasis of Pregnancy as a Clinical Manifestation of Sodium-Taurocholate Cotransporting Polypeptide Deficiency.

Chen R et al.

The Tohoku Journal of Experimental Medicine, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."