Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.N101K
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SLC5A2

NM_003041.4:p.N101K

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

A young-onset type 2 diabetic Chinese girl with familial renal glycosuria caused by a novel mutation in SLC5A2: A case report.

Qu Y et al.

Journal of Diabetes, 2023

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

Case report: Identification of three novel compound heterozygous SGLT2 variants in three Chinese pediatric patients with familial renal glucosuria.

Huang H et al.

Frontiers in Pediatrics, 2022

Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium-glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene.

Sada K et al.

Journal of Diabetes Investigation, 2020

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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."