Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.W289C
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SLC5A2

NM_003041.4:p.W289C

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

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

Familial renal glucosuria: a clinicogenetic study of 23 additional cases.

Lee H et al.

Pediatric Nephrology (berlin, Germany), 2012

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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."