A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.

Yukiko KurodaMayumi MatsufujiYumi EnomotoHitoshi OsakaJun-Ichi TakanashiToshiyuki YamamotoYurika Numata-UematsuKenshiro TabataKenji KurosawaKen Inoue
Published in: American journal of medical genetics. Part A (2023)