Publications

Foley R, Bolduc V, Guirguis F, et al. The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.03.29.24304673Google ScholarPubMedDOI