A STEP causes intron retention if a transcript exists with an exon completely spanning the intron containing the STEP, activation of an alternative splice site if there exists an intron that incomplet
RNA modifications, including adenosine-to-inosine (A-to-I) editing, are fundamental for normal brain physiology, as they participate in multiple biological processes and pathological conditions. These
Four male patients were enrolled for this study in collaboration with the Cardiology Unit of Policlinico Tor Vergata-Fondazione PTV (Rome). We have performed RNA-Sequencing using NextSeq 500 ILLUMINA
