Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.
Frank-Hansen R et al.
European Journal of Human Genetics : Ejhg, 2008
Select a paper to view details