@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:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_head { this: np:hasAssertion dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_assertion; np:hasProvenance dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_provenance; np:hasPublicationInfo dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_publicationInfo; a np:Nanopublication . dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_assertion a np:Assertion . dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_provenance a np:Provenance . dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_publicationInfo a np:PublicationInfo . } dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_assertion { miriam-gene:6772 a ncit:C16612 . lld:C0026918 a ncit:C7057 . dgn-gda:DGNd06dd890ca36f9580d3b09ed3803b3be sio:SIO_000628 miriam-gene:6772, lld:C0026918; a sio:SIO_001121 . } dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_provenance { dgn-np:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_assertion dcterms:description "[To recognize patients with inhibitory and neutralizing auto-antibodies to interferon-γ (AutoAbs-IFN-γ) presenting with the sporadic phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) mainly characterized by recurrent intracellular mycobacterium or/and salmonella infections, we comprehensively investigated IL12/23-IFN-γ signaling, candidate genetic sequencings or/and protein expressions of IL12RB1, IFNRG1, IL12p40, IFNRG2, STAT1, IKKA, NEMO, CYBB and IRF8 in four patients.]. 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:23083630; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP473636.RADDzj93RKcyOVOSuwp0fAazCb-KXCPKGtTgrgqTOXXao130_publicationInfo { this: dcterms:created "2014-10-02T12:36:44+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }