Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
通过CDH1特异性种系变异的整理优化临床诊疗:改进临床论断和更新整理指南
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2022-108807
Luo, Xi; Maciaszek, Jamie L; Thompson, Bryony A; Leong, Huei San; Dixon, Katherine; Sousa, Sónia; Anderson, Michael; Roberts, Maegan E; Lee, Kristy; Spurdle, Amanda B; Mensenkamp, Arjen R; Brannan, Terra; Pardo, Carolina; Zhang, Liying; Pesaran, Tina; Wei, Sainan; Fasaye, Grace-Ann; Kesserwan, Chimene; Shirts, Brian H; Davis, Jeremy L; Oliveira, Carla; Plon, Sharon E; Schrader, Kasmintan A; Karam, Rachid