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
Three-dimensional missense tolerance ratio analysis.
Perszyk RE et al.
Genome Research, 2021
34301626 (PubMed )
Supplement: supp_gr.275528.121_Supplemental_Dataset_2.xlsx › mutant_variant_Data
An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking.
Mota Vieira M et al.
Cell Reports, 2020
32877683 (PubMed )
Supplement: NIHMS1627855-supplement-2.xlsx › GRIN2A_variants
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V et al.
Brain : a Journal of Neurology, 2019
30544257 (PubMed )
Supplement: awy304_supp.zip › awy304-suppl_data › brain-2018-01122-File013.pdf
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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