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A crowdsourcing database for the copy-number variation of the Spanish population

Author / Creator:López-López, Daniel ; Roldán, Gema ; Fernández-Rueda, Jose L. ; Bostelmann, Gerrit ; Carmona, Rosario ; Aquino, Virginia ; Perez-Florido, Javier ; Ortuño, Francisco ; Pita, Guillermo ; Núñez-Torres, Rocío ; González-Neira, Anna ; Alonso, Angel ; Salgado-Garrido, Josefa ; Pasalodos-Sanchez, Sara ; Ayuso, Carmen ; Minguez, Pablo ; Avila-Fernandez, Almudena ; Corton, Marta ; Artuch, Rafael ; Borrego, Salud ; Antiñolo, Guillermo ; Carracedo, Angel ; Amigo, Jorge ; Castaño, Luis Antonio ; Tejada, Isabel ; Delmiro, Aitor ; Espinos, Carmina ; Grinberg, Daniel ; Guillén, Encarnación ; Lapunzina, Pablo ; Lopez-Escámez, Jose Antonio ; Gallego-Martinez, Alvaro ; Martí, Ramón ; Rovira, Eulalia ; Millán, José Mª ; Moreno, Miguel Angel ; Morin, Matías ; Moreno-Galdó, Antonio ; Fernández-Cancio, Mónica ; Morte, Beatriz ; Mulero, Victoriano ; García, Diana ; Nunes, Virginia ; Palau, Francesc ; Perez, Belén ; Jurado, Luis Pérez ; Perona, Rosario ; Pujol, Aurora ; Ramos, Feliciano ; Lopez, Esther ; Ribes, Antonia ; Rosell, Jordi ; Surrallés, Jordi ; Peña-Chilet, María ; Dopazo, Joaquin

Publisher:England: BioMed Central

Journal title:Human genomics, 2023-03, Vol.17 (1), p.20-20, Article 20

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Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments

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A crowdsourcing database for the copy-number variation of the Spanish population

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