Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.R499H
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SLC5A1

NM_000343.4:p.R499H

Associated Papers

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

Lostao MP et al.

Function (oxford, England), 2021

Literature review on congenital glucose-galactose malabsorption from 2001 to 2019.

Wang W et al.

Journal of Paediatrics and Child Health, 2020

Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3
.

Fiscaletti M et al.

Hormone Research in Paediatrics, 2017

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

Santer R et al.

Journal of the American Society of Nephrology : Jasn, 2003

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

Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects.

Martín MG et al.

Gastroenterology, 1997

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

Martín MG et al.

Nature Genetics, 1996

Arginine-427 in the Na+/glucose cotransporter (SGLT1) is involved in trafficking to the plasma membrane.

Lostao MP et al.

Febs Letters, 1995

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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."