CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia
CHCHD10 Pro34Ser 不是肌萎缩侧索硬化症和额颞叶痴呆症的高外显率致病变异。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awv223
Abdelkarim, Samir; Morgan, Sarah; Plagnol, Vincent; Lu, Ching-Hua; Adamson, Gary; Howard, Robin; Malaspina, Andrea; Orrell, Richard; Sharma, Nikhil; Sidle, Katie; Clarke, Jan; Fox, Nick C; Rossor, Martin N; Warren, Jason D; Clark, Camilla N; Rohrer, Jonathan D; Fisher, Elizabeth M C; Mead, Simon; Pittman, Alan; Fratta, Pietro