Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.V714I
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GRIN2B

NM_000834.5:p.V714I

Associated Papers

Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.

Korinek M et al.

Physiological Research, 2024

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Xu XX et al.

Neuroscience Bulletin, 2018

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

Swanger SA et al.

American Journal of Human Genetics, 2016

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