A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype
采用基因组优先方法表征DICER1致病变异的流行率、外显率和表型
期刊:Jama Network Open
影响因子:9.7
doi:10.1001/jamanetworkopen.2021.0112
Mirshahi, Uyenlinh L; Kim, Jung; Best, Ana F; Chen, Zongming E; Hu, Ying; Haley, Jeremy S; Golden, Alicia; Stahl, Richard; Manickam, Kandamurugu; Carr, Ann G; Harney, Laura A; Field, Amanda; Hatton, Jessica; Schultz, Kris Ann P; Bauer, Andrew J; Hill, D Ashley; Rosenberg, Philip S; Murray, Michael F; Carey, David J; Stewart, Douglas R