The association between GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B) and Developmental And Epileptic Encephalopathy 27 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.
Sources4
Clinical variants1,185
Symptoms34
Compounds0
Trials0
Publications28
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
