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J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

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PMID:
22841008
[PubMed - indexed for MEDLINE]
PMCID:
PMC3511613
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