Associated Papers
N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.
Charron JG et al.
American Journal of Medical Genetics. Part A, 2022
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
34212862 (PubMed )
Supplement: elife-67555-supp2.xlsx › ClinVar_-_filtered
Select a paper to view details