The association between UFSP2 (UFM1 Specific Peptidase 2) and Developmental And Epileptic Encephalopathy 106 is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.
Sources3
Clinical variants5
Symptoms33
Compounds0
Trials0
Publications1
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
