Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield
通过NGS对遗传性癌症患者拷贝数变异进行表征，结果显示PALB2对诊断率有显著贡献
期刊:Human Mutation
影响因子:3.7
doi:10.1155/humu/6601291
Bonamici, Lia; Artuso, Lucia; Marino, Marco; Toss, Angela; Sidoti, Diletta; Barbieri, Elena; Venturelli, Marta; Marchi, Isabella; Pescucci, Chiara; Manfredini, Rossella; Papi, Laura; Dominici, Massimo; Cortesi, Laura; Tenedini, Elena; Tagliafico, Enrico
