Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.C571S
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SLC3A1

NM_000341.4:p.C571S

Associated Papers

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Alghamdi M et al.

Frontiers in Pediatrics, 2020

Delineation of cystinuria in Saudi Arabia: A case series.

Obaid A et al.

Bmc Nephrology, 2017

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Alfadhel M et al.

Orphanet Journal of Rare Diseases, 2016

Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit.

Rius M et al.

The Journal of Biological Chemistry, 2012

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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."