Open access
Aug 2026
Analysis of spliceosome-related coding and noncoding genes and pseudogenes reveals novel candidates
Splicing is a complex molecular mechanism in eukaryotic cells essential to gene expression and regulation, involving more than 300 protein-coding genes (PCGs) and 43 small nuclear RNA (snRNA) genes. However, fewer than 30 gene-disease relationships have been described as spliceosomopathies to date. This discrepancy sug...
O. Messaoud, S. DiTroia, R. Tarawneh et al.
· medRxiv · 0 citations