Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A5
Variant:p.M316I
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SLC17A5

NM_012434.5:p.M316I

Associated Papers

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, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

Kleta R et al.

Molecular Genetics and Metabolism, 2004

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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."