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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

by Bogliolo, Massimo, Pujol, Roser, Aza-Carmona, Miriam, Muñoz-Subirana, Núria, Rodriguez-Santiago, Benjamin, Casado, José Antonio, Rio, Paula, Bauser, Christopher, Reina-Castillón, Judith, Lopez-Sanchez, Marcos, Gonzalez-Quereda, Lidia, Gallano, Pia, Catalá, Albert, Ruiz-Llobet, Ana, Badell, Isabel, Diaz-Heredia, Cristina, Hladun, Raquel, Senent, Leonort, Argiles, Bienvenida, Bergua Burgues, Juan Miguel, Bañez, Fatima, Arrizabalaga, Beatriz, López Almaraz, Ricardo, Lopez, Monica, Figuera, Ángela, Molinés, Antonio, Pérez de Soto, Inmaculada, Hernando, Inés, Muñoz, Juan Antonio, del Rosario Marin, Maria, Balmaña, Judith, Stjepanovic, Neda, Carrasco, Estela, Cuesta, Isabel, Cosuelo, José Miguel, Regueiro, Alexandra, Moraleda Jimenez, José, Galera-Miñarro, Ana Maria, Rosiñol, Laura, Carrió, Anna, Beléndez-Bieler, Cristina, Escudero Soto, Antonio, Cela, Elena, de la Mata, Gregorio, Fernández-Delgado, Rafael, Garcia-Pardos, Maria Carmen, Sáez-Villaverde, Raquel, Barragaño, Marta, Portugal, Raquel, Lendinez, Francisco, Hernadez, Ines, Vagace, José Manue, Tapia, Maria, Nieto, José, Garcia, Marta, Gonzalez, Macarena, Vicho, Cristina, Galvez, Eva, Valiente, Alberto, Antelo, Maria Luisa, Ancliff, Phil, Garcia, Francisco, Dopazo, Joaquin, Sevilla, Julian, Paprotka, Tobias, Pérez-Jurado, Luis Alberto, Bueren, Juan, Surralles, Jordi
Published in Journal of medical genetics (01.04.2020)

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