Decoding pseudoexon activation by deep intronic variants using a high-throughput minigene assay in the NF1 gene
Eliška Svobodová, Přemysl Souček, Kamila Réblová, Zdeněk Kubát, Marie Krátká, Tom Freiberger, Lucie Grodecká
The paper develops a high-throughput minigene assay to identify pseudoexon-activating variants in the NF1 gene and benchmarks splicing prediction tools.
bioRxiv · Oct 20, 2026 · PreprintMolecular Biology