Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
RBM42 的双等位基因变异会导致多系统疾病，累及神经系统、面部、心脏和肌肉骨骼系统
期刊:Protein & Cell
影响因子:12.8
doi:10.1093/procel/pwad034
Chen Yiyao, Yang Bingxin, Zhang Xiaoyu Merlin, Chen Songchang, Wang Minhui, Hu Liya, Pan Nina, Li Shuyuan, Shi Weihui, Yang Zhenhua, Wang Li, Tan Yajing, Wang Jian, Wang Yanlin, Xing Qinghe, Ma Zhonghua, Li Jinsong, Huang He-Feng, Zhang Jinglan, Xu Chenming
