Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.A468V
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SLC5A1

NM_000343.4:p.A468V

Associated Papers

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

Lostao MP et al.

Function (oxford, England), 2021

Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.

Cannizzaro M et al.

Journal of Applied Genetics, 2019

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

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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."