RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Genet Med. 2026 Jun 19:102633. doi: 10.1016/j.gim.2026.102633. Online ahead of print.ABSTRACTPURPOSE: We aim to better define the genotype and phenotype spectrum of RNU4ATAC-opathy, demonstrate the utility of RNA sequencing for variant classification, and highlight challenges in detecting variants i

