@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_head { this: np:hasAssertion dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_assertion; np:hasProvenance dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_provenance; np:hasPublicationInfo dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_publicationInfo; a np:Nanopublication . dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_assertion a np:Assertion . dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_provenance a np:Provenance . dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_publicationInfo a np:PublicationInfo . } dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_assertion { miriam-gene:3447 a ncit:C16612 . lld:C0026918 a ncit:C7057 . dgn-gda:DGNb67889a7f95ce8b5844a6eb1e2e89c19 sio:SIO_000628 miriam-gene:3447, lld:C0026918; a sio:SIO_001121 . } dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_provenance { dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_assertion dcterms:description "[IFN-gammaR1 deficiency is a genetic etiology of Mendelian susceptibility to mycobacterial diseases, and includes two forms of complete recessive deficiency, with or without cell surface expression, and two forms of partial deficiency, dominant or recessive.]. 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:19880857; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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 . } dgn-np:NP477834.RAdnVxxOblggQeljUE7wrNMMpBrXbyalDzndqboMJLKGY130_publicationInfo { this: dcterms:created "2015-08-25T14:42:21+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }