Molecular BiologybioRxivPreprint
Decoding pseudoexon activation by deep intronic variants using a high-throughput minigene assay in the NF1 gene
Eliška Svobodová, Přemysl Souček, Kamila Réblová…·Lucie Grodecká
The paper develops a high-throughput minigene assay to identify pseudoexon-activating variants in the NF1 gene and benchmarks splicing prediction tools.
DOI 10.64898/2026.10.20.760351