Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.D233E
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SLC7A9

NM_014270.5:p.D233E

Associated Papers

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

Martell HJ et al.

Bmc Genomics, 2017

28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S9

Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat.

Mizukami K et al.

Plos One, 2016

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

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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."