학술논문
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy
Document Type
Article
Author
Salinas, Valeria; Vega, Patricia; Piccirilli, María Victoria; Chicco, Carla; Ciraolo, Carlos; Christiansen, Silvia; Consalvo, Damián; Perez-Maturo, Josefina; Medina, Nancy; González-Morón, Dolores; Novaro, Virginia; Perrone, Cecilia; García, María del Carmen; Agosta, Guillermo; Silva, Walter; Kauffman, Marcelo
Source
In European Journal of Medical Genetics November 2019 62(11)
Subject
Language
ISSN
1769-7212