Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.G202Splc
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SLC7A9

NM_014270.5:p.G202Splc

Associated Papers

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

Barbosa M et al.

Clinical Genetics, 2012

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

Chatzikyriakidou A et al.

Urological Research, 2006

Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.

Chatzikyriakidou A et al.

Genetic Testing, 2005

SLC7A9 mutations in all three cystinuria subtypes.

Leclerc D et al.

Kidney International, 2002

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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."