The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2.

2025
https://researcherprofiles.org/profile/595671958
39990552
Jacovas VC, Zelnick M, McNulty S, Ross JE, Khurana N, Pan X, Nieto A, Martin S, McLean B, Elnagheeb MA, Cowan MJ, Puck JM, Hershfield M, Verbsky J, Walter J, Allenspach E, Chan AY, van Oers NSC, Ghosh R, Piazza M, Yuan B, Notarangelo LD, Johnson BA, Chinn IK