Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.G304R
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SLC5A2

NM_003041.4:p.G304R

Associated Papers

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

A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria.

Francis J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004

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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."