Open access
Aug 2026
Analysis of spliceosome-related coding and noncoding genes and pseudogenes reveals novel candidates
By leveraging specialized approaches for prioritizing pseudogenes, combined with the PCG and snRNA analysis, the genes and variants expand the variant pathogenicity spectrum of spliceosomopathies and suggest variants for follow-up case series and future functional validation.
O. Messaoud, S. DiTroia, R. Tarawneh et al.
· medRxiv · 0 citations