Revision of splicing variants in the DMD gene
Kseniya Davydenko, Alexandra Yu. Filatova, Mikhail Y. Skoblov
The paper identifies and validates splicing variants in the DMD gene, showing most intronic variants affect splicing and many exonic variants disrupt splicing, with clinical implications for Duchenne and Becker muscular dystrophy.
bioRxiv · Jan 31, 2024 · PreprintGenetics