“Non-Canonical Splicing Variants: Common and Clinically Significant in Neurodevelopmental Disorders”

https://pubmed.ncbi.nlm.nih.gov/38113761

The study found that non-canonical splicing variants (NCSVs) are common and clinically important in neurodevelopmental disorders (NDDs), with 36 novel clinically relevant variants identified, highlighting their role in the pathology and clinical interpretation of unsolved patients with NDD.