Varaico: Literature-Extracted Genetic Variants

Gene:GLUD2
Variant:p.S12P
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GLUD2

NM_012084.4:p.S12P

Associated Papers

Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability.

Chiou TT et al.

Frontiers in Molecular Neuroscience, 2019

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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."