Splice-site mutations are genetic variants that disrupt the signals required for accurate RNA splicing. They can cause exon skipping, intron retention, cryptic splice-site activation, abnormal mRNA production, and changes in protein expression.
Splice-site mutations are genetic variants that disrupt the signals required for accurate RNA splicing. They can cause exon skipping, intron retention, cryptic splice-site activation, abnormal mRNA production, and changes in protein expression.