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
| Autor: | 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 |
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| Zdroj: | In European Journal of Medical Genetics November 2019 62(11) |
| Databáze: | ScienceDirect |
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