Identification of novel CDK19 variants and Drosophila-based in vivo functional evidence supporting pathogenicity in neurodevelopmental disorders.
PURPOSE CDK19 (HGNC:19338) is a Mediator-associated kinase that regulates transcription during neurodevelopment. Although CDK19 variants have been linked to neurodevelopmental disorders, the full phenotypic spectrum and underlying pathogenic mechanisms remain incompletely defined. We aimed to further characterize clini...