Fig. 1: Variant cohort details.
From: SpliceVault predicts the precise nature of variant-associated mis-splicing
a,b, Phenotypes associated with 88 experimentally verified clinical splicing variants (a) and position of the 76/88 variants that are SNVs relative to the ESs (b). c, Nature of 148 unannotated splicing events (mis-splicing) induced by the 88 variants. IR = intron retention.
