@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion ; np:hasProvenance sub:provenance ; np:hasPublicationInfo sub:publicationInfo ; a np:Nanopublication . } sub:assertion { dgn-gda:DGNca0b7d4b52d67d1cd199ff8117827a19 sio:SIO_000628 miriam-gene:5897 , lld:C0085110 ; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[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 ; wi:evidence dgn-void:source_evidence_literature ; sio:SIO_000772 miriam-pubmed:17476358 ; prov:wasDerivedFrom dgn-void:LHGDN ; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:LHGDN pav:importedOn "2009-03-31"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212 ; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ; rdfs:label "DisGeNET evidence - LITERATURE"@en . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:15:53+02:00"^^xsd:dateTime ; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup ; dcterms:subject sio:SIO_000983 ; prv:usedData dgn-void:disgenetv3.0rdf ; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }