Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.D28G
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SLC5A1

NM_000343.4:p.D28G

Associated Papers

A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation.

Muralidharan H et al.

Cureus, 2025

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

Wang W et al.

Journal of Paediatrics and Child Health, 2020

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

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

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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."