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New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines by Elena Fernández-Suárez, María González-del Pozo, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marcela Mena, Alejandro García-Nuñez, Nereida Bravo-Gil, María José Morillo-Sánchez, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo
Published 2025-07-01Get full text
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A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo
Published 2025-01-01Get full text
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