Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation

Autor: Salinas, Valeria, Martínez, Nerina, Maturo, Josefina Pérez, Rodriguez-Quiroga, Sergio A., Zavala, Lucia, Medina, Nancy, Amartino, Hernán, Sfaello, Ignacio, Agosta, Guillermo, Serafín, Eva Maria, Morón, Dolores González, Kauffman, Marcelo A., Vega, Patricia
Zdroj: In European Journal of Medical Genetics December 2021 64(12)
Databáze: ScienceDirect