From Variant of Uncertain Significance to Likely Pathogenic in Two Siblings with Atypical RAG2 Deficiency: a Case Report and Review of the Literature
BMC Pediatrics（2024）
Key words
Inborn errors of immunity,Primary immunodeficiency,Recombination activating gene,Severe combined immunodeficiency,VUS classification,Likely pathogenic variant,Leaky SCID
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