Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing
使用稀有变异连锁分析和长读基因组测序对 1 型面肩肱型肌营养不良症进行基因诊断
期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2024.101817
Kun Li, Daniel Quiat, Fei She, Yuanwei Liu, Rong He, Alireza Haghighi, Fang Liu, Rui Zhang, Steven Robert DePalma, Ying Yang, Wen Wang, Christine E Seidman, Ping Zhang, Jonathan G Seidman