Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.S159P
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SLC5A1

NM_000343.4:p.S159P

Associated Papers

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Caswell RC et al.

Genome Medicine, 2022

35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

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

The Molecular Physiology of Sodium- and Proton-Coupled Solute Transporters.

Steel A et al.

News in Physiological Sciences : an International Journal of Physiology Produced Jointly by the International Union of Physiological Sciences and the American Physiological Society, 1998

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."