Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.R132C
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SLC5A2

NM_003041.4:p.R132C

Associated Papers

Familial Renal Glucosuria and Potential Pharmacogenetic Impact on Sodium-Glucose Cotransporter-2 Inhibitors.

Allaire P et al.

Kidney360, 2025

39412882 (PubMed )
Supplement: kidney360-6-521-s005.xlsx › Table_S2._SLC5A2_Variants

Genetic and clinical characterization of familial renal glucosuria.

Xu L et al.

Clinical Kidney Journal, 2024

38344682 (PubMed )
Supplement: sfad265_supplemental_file.docx

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Topak A

Laboratory Medicine, 2024

Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.

Dorum S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.

Wang S et al.

Frontiers in Genetics, 2020

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

Hureaux M et al.

Kidney International, 2019

Identification of ten novel SLC5A2 mutations and determination of the renal threshold for glucose excretion in Chinese patients with familial renal glucosuria.

Wang S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

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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."