Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
基于基因组测序数据的脊髓性肌萎缩症诊断和携带者筛查
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-0754-0
Chen, Xiao; Sanchis-Juan, Alba; French, Courtney E; Connell, Andrew J; Delon, Isabelle; Kingsbury, Zoya; Chawla, Aditi; Halpern, Aaron L; Taft, Ryan J; Bentley, David R; Butchbach, Matthew E R; Raymond, F Lucy; Eberle, Michael A