GeneticsbioRxivPreprint
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact
Daffodil M. Canson, Inés Llinares‐Burguet, Cristina Fortuño…·Eladio A. Velasco
The paper analyzes TP53 minigenes to show that splicing regulatory elements and their disruption by variants affect splicing outcomes, with deletions having stronger impacts than SNVs.
1 citation