Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.R558C
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SLC5A1

NM_000343.4:p.R558C

Associated Papers

Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.

Xin B et al.

Clinical Genetics, 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

A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption.

Gok F et al.

Journal of Pediatric Gastroenterology and Nutrition, 2005

Molecular basis for glucose-galactose malabsorption.

Wright EM et al.

Cell Biochemistry and Biophysics, 2002

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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."