Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.S133S
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SLC7A9

NM_014270.5:p.S133S

Associated Papers

A Case of Cystinuria With Compound Heterozygous Mutations Both in SLC3A1 and SLC7A9 Genes.

Suh SH et al.

Electrolyte & Blood Pressure : E & Bp, 2025

Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.

Lee EH et al.

Journal of Korean Medical Science, 2010

Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.

Chatzikyriakidou A et al.

Urological Research, 2006

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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."