Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A5
Variant:p.R57C
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SLC17A5

NM_012434.5:p.R57C

Associated Papers

The molecular mechanism of sialic acid transport mediated by Sialin.

Hu W et al.

Science Advances, 2023

Primer on genes encoding enzymes in sialic acid metabolism in mammals.

Wickramasinghe S et al.

Biochimie, 2011

Molecular and cellular basis of lysosomal transmembrane protein dysfunction.

Ruivo R et al.

Biochimica Et Biophysica Acta, 2009

Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.

Ruivo R et al.

Biology of the Cell, 2008

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Froissart R et al.

Journal of Medical Genetics, 2005

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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."