Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.M316I
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CTNS

NM_004937.3: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

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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."