Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.Q81H
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CSGALNACT1

NM_001354483.2:p.Q81H

Associated Papers

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Vodopiutz J et al.

Human Mutation, 2017

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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."