Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.D28N
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SLC5A1

NM_000343.4:p.D28N

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

SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.

Al-Suyufi Y et al.

Journal of Pediatric Gastroenterology and Nutrition, 2018

Molecular basis for glucose-galactose malabsorption.

Wright EM et al.

Cell Biochemistry and Biophysics, 2002

The apical localization of SGLT1 glucose transporter is determined by the short amino acid sequence in its N-terminal domain.

Suzuki T et al.

European Journal of Cell Biology, 2001

I. Glucose galactose malabsorption.

Wright EM

The American Journal of Physiology, 1998

Neutralization of conservative charged transmembrane residues in the Na+/glucose cotransporter SGLT1.

Panayotova-Heiermann M et al.

Biochemistry, 1998

Human glucose transporters.

Longo N et al.

Advances in Pediatrics, 1998

Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption.

Martín MG et al.

Prenatal Diagnosis, 1996

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."