Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.S263R
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SLC3A1

NM_000341.4:p.S263R

Associated Papers

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Anderegg MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024

Clinical profile of a Polish cohort of children and young adults with cystinuria.

Tkaczyk M et al.

Renal Failure, 2021

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

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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."