Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments

Figure 7

Variant 4—exonic cryptic splice site variant. Exonic variants can create or activate cryptic splice sites, leading to the exclusion of part of the exon and no functional protein production. The variant site can be targeted with a ssASO to hide the cryptic site, thus restoring splicing and protein production. The shape of the exon indicates the reading frame, and grey marked areas are protein domains.