Open access
Oct 2026
Aberrant recursive splicing in a human disease locus.
Recursive splice sites are rare motifs postulated to facilitate splicing across massive introns and shape isoform diversity. The necessity of recursive splicing (RS) and its role in human disease are unsubstantiated. Here, we use CRISPR to model intronic deletions eliminating an RS site (RS1) in CADM2 and conferring ri...
Philip M. Boone, Ricardo Harripaul, Rachita Yadav et al.
· Cell Reports · 0 citations