ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026

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 et al.PubMed ↗Full text ↗Publisher ↗

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