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Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-39496-5
Abstract: RAG1 or RAG2 mutations are associated with defects in V(D)J recombination activity, causing severe immunodeficiency with a wide spectrum of clinical phenotypes. A R229Q mutation of RAG2 was identified in patients with severe combined immunodeficiency…
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Keywords:
severe immunodeficiency;
rag2;
r229q mutation;
mutation ... See more keywords