An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
一种与 VCP 致病变异相关的常染色体显性儿童期发病疾病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.10.007
Annelise Y Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C Creekmore, William Burns, Steven A Skinner, Øystein L Holla, Marie F Smeland, Marc Planes, Kevin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, Martin A Mensah, Henrike L Sczakiel, Heidelis Tichy, Sarah Verheyen,