Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy
Two recurrent canonical splice-site variants identified in patients with HCM from the Emilia-Romagna region of Northern Italy represent novel founder alleles associated with HCM in Northern Italy, and identification improves molecular diagnosis, family screening, and supports the development of variant-targeted therape...