Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.L147R
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SLC5A1

NM_000343.4:p.L147R

Associated Papers

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

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

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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."