Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.N463delFs
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SLC3A1

NM_000341.4:p.N463delFs

Associated Papers

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.

Chatzikyriakidou A et al.

Molecular Genetics and Metabolism, 2008

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

Di Perna M et al.

Genetic Testing, 2008

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Louizou E et al.

Human Genetics, 2007

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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."