Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
PALB2基因变异的选择性剪接和基于ACMG-AMP-2015的分类:ENIGMA报告
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2018-105834
Lopez-Perolio, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz-Rubio, Eduardo; Caldés, Trinidad; Hruska, Kathleen S; Hsuan, Vickie; Wu, Sitao; Pesaran, Tina; Karam, Rachid; Vallon-Christersson, Johan; Borg, Ake; Valenzuela-Palomo, Alberto; Velasco, Eladio A; Southey, Melissa; Vreeswijk, Maaike P G; Devilee, Peter; Kvist, Anders; Spurdle, Amanda B; Walker, Logan C; Krieger, Sophie; de la Hoya, Miguel