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_S2
Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J et al.
Human Genetics, 2025
38170232 (PubMed )
Supplement: 439_2023_2624_MOESM2_ESM.xlsx › SupplementaryTable1
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