Browsing by Author Sykut Cegielska, Jolanta
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| Issue Date | Title | Author(s) |
|---|---|---|
| Jul-2024 | Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing | Morales Romero, Blai; Muñoz Pujol, Gerard; Artuch Iriberri, Rafael; García Cazorla, Àngels; O'Callaghan, Mar; Sykut Cegielska, Jolanta; Campistol Plana, 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 Rubió, Maria Antònia; Garcia Villoria, Judit; Tort, Frederic |