Varaico: Literature-Extracted Genetic Variants

Gene:SLC51A
Variant:p.Q186*
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SLC51A

NM_152672.6:p.Q186*

Associated Papers

Structure and mechanism of the human bile acid transporter OSTα-OSTβ.

Wang K et al.

Nature, 2026

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.

Kashevarova AA et al.

Molecular Genetics & Genomic Medicine, 2025

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

Cheema HA et al.

Jpma. the Journal of the Pakistan Medical Association, 2023

Identification of Key Amino Acids that Impact Organic Solute Transporter α/β (OSTα/β).

Murphy WA et al.

Molecular Pharmacology, 2021

Novel insights into the organic solute transporter alpha/beta, OSTα/β: From the bench to the bedside.

Beaudoin JJ et al.

Pharmacology & Therapeutics, 2020

Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.

Gao E et al.

Hepatology (baltimore, Md.), 2020

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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."