Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.A138_P139delFs
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SLC7A9

NM_014270.5:p.A138_P139delFs

Associated Papers

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Gaildrat P et al.

Molecular Genetics & Genomic Medicine, 2017

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

Rhodes HL et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2015

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

Wong KA et al.

Bju International, 2015

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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."