New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software
导致夏科-马里-图斯病的新结构变异:CovCopCan软件检测到的前两个KIF5A大片段缺失
期刊:Computational and Structural Biotechnology Journal
影响因子:4.1
doi:10.1016/j.csbj.2021.07.037
Pyromali, Ioanna; Perani, Alexandre; Nizou, Angélique; Benslimane, Nesrine; Derouault, Paco; Bourthoumieu, Sylvie; Fradin, Mélanie; Sole, Guilhem; Duval, Fanny; Gomes, Constantin; Favreau, Frédéric; Sturtz, Franck; Magdelaine, Corinne; Lia, Anne-Sophie