Publications:

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.

Molecular And Cellular Biology

Gomez, C A CA; Ptaszek, L M LM; Villa, A A; Bozzi, F F; Sobacchi, C C; Brooks, E G EG; Notarangelo, L D LD; Spanopoulou, E E; Pan, Z Q ZQ; Vezzoni, P P; Cortes, P P; Santagata, S S

Publication Date: 2000-08

Variant appearance in text: NSF: S356L

PubMed Link: 10891502

Variant Present in the following documents:

• Main text

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