Associated Papers
GRIN2B disease-associated mutations disrupt the function of BK channels and NMDA receptor signaling nanodomains.
Martínez-Lázaro R et al.
The Journal of General Physiology, 2025
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
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 2021
33880452 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population.
Takasaki Y et al.
Scientific Reports, 2016
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