Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.R379Q
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SLC5A1

NM_000343.4:p.R379Q

Associated Papers

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

Wang W et al.

Journal of Paediatrics and Child Health, 2020

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

Cannizzaro M et al.

Journal of Applied Genetics, 2019

SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.

Al-Suyufi Y et al.

Journal of Pediatric Gastroenterology and Nutrition, 2018

Molecular basis for glucose-galactose malabsorption.

Wright EM et al.

Cell Biochemistry and Biophysics, 2002

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."