Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.R135W
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SLC5A1

NM_000343.4:p.R135W

Associated Papers

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

Wang W et al.

Journal of Paediatrics and Child Health, 2020

The iodide-transport-defect-causing mutation R124H: a δ-amino group at position 124 is critical for maturation and trafficking of the Na+/I- symporter.

Paroder V et al.

Journal of Cell Science, 2013

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

Transmembrane IV of the high-affinity sodium-glucose cotransporter participates in sugar binding.

Liu T et al.

American Journal of Physiology. Cell Physiology, 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

A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.

Kasahara M et al.

Biochimica Et Biophysica Acta, 2001

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

Lam JT et al.

Biochimica Et Biophysica Acta, 1999

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."