EFHC1 variants in juvenile myoclonic epilepsy reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Julia N Bailey Christopher Patterson; Laurence de Nijs; Reyna M Durón; Viet-Huong Nguyen; Miyabi Tanaka; Marco T Medina; Aurelio Jara-Prado; Iris E Martínez-Juárez; Adriana Ochoa; Yolli Molina; Toshimitsu Suzuki; María E Alonso; Jenny E Wight; Yu-Chen Lin; Laura Maria de Figueiredo Ferreira Guilhoto; Elza Marcia Targas Yacubian; Jesús Machado-Salas; Andrea Daga; Kazuhiro Yamakawa; Thierry M Grisar; Bernard Lakaye; Antonio V Delgado-Escueta

Genetics in Medicine Baltimore v. 19, n. 2, p. 144-156, feb. 2017

Baltimore 2017

Localização: HU - Hospital Universitário    (Separatas 2017 )(Acessar)