Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.I187F
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SLC7A9

NM_014270.5:p.I187F

Associated Papers

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

Martell HJ et al.

Bmc Genomics, 2017

The genetic diversity of cystinuria in a UK population of patients.

Wong KA et al.

Bju International, 2015

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."