Consultation informs strategies for improving the use of functional evidence in variant classification
咨询为改进变异分类中功能证据的使用策略提供了信息。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.05.003
Villani, Rehan M; Terrill, Bronwyn; Tudini, Emma; McKenzie, Maddison E; Cliffe, Corrina C; Hahn, Christopher N; Lundie, Ben; Mattiske, Tessa; Matotek, Ebony; McEwen, Abbye E; Nickerson, Sarah L; Breen, James; Fowler, Douglas M; Christodoulou, John; Starita, Lea; Rubin, Alan F; Spurdle, Amanda B