Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Autor: | Morales-Romero, Blai, Muñoz-Pujol, Gerard, Artuch, Rafael, García-Cazorla, Angels, O'Callaghan, Mar, Sykut-Cegielska, Jolanta, Campistol, Jaume, Moreno-Lozano, Pedro Juan, Oud, Machteld M., Wevers, Ron A., Lefeber, Dirk J., Esteve-Codina, Anna, Yepez, Vicente A., Gagneur, Julien, Wortmann, Saskia B., Prokisch, Holger, Ribes, Antonia, García-Villoria, Judit, Tort, Frederic |
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Zdroj: | In Molecular Genetics and Metabolism July 2024 142(3) |
Databáze: | ScienceDirect |
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