Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment
可扩展地生成和对先天性免疫缺陷基因变异进行功能分类,以加速临床诊断和治疗。
期刊:Cell
影响因子:45.5
doi:10.1016/j.cell.2025.05.037
Zachary H Walsh,Chris J Frangieh,Neeharika Kothapalli,Jay Levy,Clarissa K Heck,Johannes C Melms,Ron S Gejman,Parin Shah,Jared M Pollard,Akul Naik,Sarah L Grauman,Lei Haley Huang,Ashley Lee,Dusan Bogunovic,Joshua D Milner,Benjamin Izar