Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.Q457R
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SLC5A1

NM_000343.4:p.Q457R

Associated Papers

Fructose Metabolism and Its Effect on Glucose-Galactose Malabsorption Patients: A Literature Review.

Alruwaili NW et al.

Diagnostics (basel, Switzerland), 2023

The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree.

Lostao MP et al.

Function (oxford, England), 2021

Structural insights into genetic variants of Na(+)/glucose cotransporter SGLT1 causing glucose-galactose malabsorption: vSGLT as a model structure.

Raja M et al.

Cell Biochemistry and Biophysics, 2012

The crystal structure of a sodium galactose transporter reveals mechanistic insights into Na+/sugar symport.

Faham S et al.

Science (new York, N.y.), 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

Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.

Lam JT et al.

Biochimica Et Biophysica Acta, 1999

I. Glucose galactose malabsorption.

Wright EM

The American Journal of Physiology, 1998

The Molecular Physiology of Sodium- and Proton-Coupled Solute Transporters.

Steel A et al.

News in Physiological Sciences : an International Journal of Physiology Produced Jointly by the International Union of Physiological Sciences and the American Physiological Society, 1998

Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.

Martín MG et al.

Nature Genetics, 1996

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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."