We identified 98 individuals with pathogenic or likely pathogenic GRIN2B variants from 23 publications [11, 16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37]. Additionally, we reported the clinical data for seven novel cases…
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases
