The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for Classification of Variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2 Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, Justyne E Ross, Namrata Khurana,Xueyang Pan, Alejandro Nieto, Shiloh Martin, Benjamin McLean, Marwa A Elnagheeb,Morton J Cowan,Jennifer M Puck, Mike Hershfield,James Verbsky, Jolan Walter, Eric Allenspach,Alice Y Chan,Nicolai S C van Oers,Rajarshi Ghosh, Megan Piazza,Bo Yuan,Luigi D Notarangelo, Britt A Johnson,Ivan K ChinnmedRxiv the preprint server for health sciences(2025)引用 0|浏览0AI 理解论文溯源树样例生成溯源树,研究论文发展脉络Chat Paper正在生成论文摘要