Clinical utility of the Human Phenotype Ontology terms in the assessment of copy number variants through whole exome sequencing
Barbara Masotto,Yolanda Moreno-Saez,Dan Diego-Alvarez,Anna Baquero-Vaquer, Uxia S. Esperon-Moldes,Rosario Ferrer-Avargues,Alfonso Andujar,Tania Otero-Rodriguez,Natali Riva,Vanesa Felipe-Ponce,Elena Mesa-Risquez,Isabel Sanchez-Guiu,Maria D. Ruiz,Roser Martinez-Rubio, Amparo Giros-Perez,Maria Sanchez-Ibanez,Sergio Lois,Oscar Rodriguez, Angela Arilla-Codoner, Cristina Torres-Vidal,Norma Aliaga,Laura Cano,Angela Gaspar, Ana Perpinan-Lopez,Nuria Serrano,Clara Casan,Celia Buades-Gomis,Alejandro Romera-Lopez, Cristian M. Moya-Aguilera,Mayte Gil-Borja, Sonia Santillan-Garzon EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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