Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP588751.RASCMqROLzhi1oI_LokGil2yxOSjm3MTkIpRM9vK5NUUA#assertion> ?p ?o ?g. }
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- assertion description "[IL-12R?1 deficiency, also known as immunodeficiency 30 (IMD30, OMIM 614891), is a rare immunodeficiency syndrome caused by biallelic mutations in IL12RB1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25467645 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.