The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2
ClinGen 重症联合免疫缺陷病变异注释专家组:ADA、DCLRE1C、IL2RG、IL7R、JAK3、RAG1 和 RAG2 变异分类规范
期刊:
影响因子:
doi:10.1101/2025.02.11.25322033
Jacovas, Vanessa C; Zelnick, Michelle; McNulty, Shannon; Ross, Justyne E; Khurana, Namrata; Pan, Xueyang; Nieto, Alejandro; Martin, Shiloh; McLean, Benjamin; Elnagheeb, Marwa A; Cowan, Morton J; Puck, Jennifer M; Hershfield, Mike; Verbsky, James; Walter, Jolan; Allenspach, Eric; Chan, Alice Y; van Oers, Nicolai S C; Ghosh, Rajarshi; Piazza, Megan; Yuan, Bo; Notarangelo, Luigi D; Johnson, Britt A; Chinn, Ivan K
ADA
免疫/内分泌
IL7R
IL2
JAK/STAT
JAK3
RAG1