Genetic & Genomic MedicineNaturePeer-reviewed
✦ In-depth digest
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim…·David H. Viskochil
Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.
156 citationstop 1%