Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.W440*
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SLC5A2

NM_003041.4:p.W440*

Associated Papers

Genetic and clinical characterization of familial renal glucosuria.

Xu L et al.

Clinical Kidney Journal, 2024

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

Sequence variants associating with urinary biomarkers.

Benonisdottir S et al.

Human Molecular Genetics, 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

Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues.

Yu L et al.

Experimental and Therapeutic Medicine, 2016

Effect of kidney disease on glucose handling (including genetic defects).

Calado J et al.

Kidney International. Supplement, 2011

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

Calado J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008

Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

Santer R et al.

Journal of the American Society of Nephrology : Jasn, 2003

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).

van den Heuvel LP et al.

Human Genetics, 2002

Glucose transport families SLC5 and SLC50.

Wright EM

Molecular Aspects of Medicine, 0

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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."