GeneticsbioRxivPreprint
Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders
Youngha Lee, Jin Sook Lee, Soo Yeon Kim…·Jong‐Hee Chae
This study uses whole exome sequencing to diagnose 352 Korean pediatric patients with undiagnosed neurodevelopmental disorders, identifying pathogenic variants in 57.4% of cases.
2 citations