Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.L369S
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SLC5A1

NM_000343.4:p.L369S

Associated Papers

Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.

Vallaeys L et al.

European Journal of Pediatrics, 2013

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

Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects.

Martín MG et al.

Gastroenterology, 1997

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."