Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.D731E
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GRIN2A

NM_001134407.3:p.D731E

Associated Papers

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.

Gao K et al.

Plos One, 2017

Glutamate receptor ion channels: structure, regulation, and function.

Traynelis SF et al.

Pharmacological Reviews, 2010

Structural features of the glutamate binding site in recombinant NR1/NR2A N-methyl-D-aspartate receptors determined by site-directed mutagenesis and molecular modeling.

Chen PE et al.

Molecular Pharmacology, 2005

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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."