Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.E319K
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OGA

NM_012215.5:p.E319K

Associated Papers

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.

Willems AP et al.

The Journal of Biological Chemistry, 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."