Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.E631K
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SLC5A2

NM_003041.4:p.E631K

Associated Papers

Genetic and clinical characterization of familial renal glucosuria.

Xu L et al.

Clinical Kidney Journal, 2024

38344682 (PubMed )
Supplement: sfad265_supplemental_file.docx

Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor.

Ren Q et al.

Journal of Diabetes, 2022

35229480 (PubMed )
Supplement: JDB-14-216-s001.xlsx › Sheet1

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

Wang S et al.

Frontiers in Genetics, 2020

A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.

Li S et al.

Molecular Medicine Reports, 2019

Genetic analysis and literature review of Chinese patients with familial renal glucosuria: Identification of a novel SLC5A2 mutation.

Wang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

Decreased expression and function of sodium-glucose co-transporter 2 from a novel C-terminal mutation: a case report.

Yu L et al.

Bmc Nephrology, 2016

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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."