Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.W230R
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SLC7A9

NM_014270.5:p.W230R

Associated Papers

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

Martell HJ et al.

Bmc Genomics, 2017

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

Font MA et al.

Human Molecular Genetics, 2001

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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."