. . . . . . . "[A knockin murine model carrying the Rag2 R229Q mutation previously described in several patients with Omenn syndrome (OS) supports the notion that impaired immune tolerance and defective immune regulation are involved in the pathophysiology of OS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:53+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .