@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:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_head { this: np:hasAssertion dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_assertion; np:hasProvenance dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_provenance; np:hasPublicationInfo dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_publicationInfo; a np:Nanopublication . dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_assertion a np:Assertion . dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_provenance a np:Provenance . dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_publicationInfo a np:PublicationInfo . } dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_assertion { miriam-gene:6772 a ncit:C16612 . lld:C0026946 a ncit:C7057 . dgn-gda:DGN9b4462d4ca43f510a774e313f15e9af6 sio:SIO_000628 miriam-gene:6772, lld:C0026946; a sio:SIO_001121 . } dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_provenance { dgn-np:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_assertion dcterms:description "[Mutations in the gene for the signal transducer and activator of transcription 1, STAT1, have been shown to be associated with death at an early age due to overwhelming viral infection (complete STAT1 deficiency) or, more commonly, selective deficiencies to mycobacterial or fungal infection (typically heterozygous STAT1 mutations).]. 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:24239102; 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:NP715668.RABRL2bj79q2N3jS0M1T_0F6ivzSkmxMOhOKtKOBlLtu4130_publicationInfo { this: dcterms:created "2015-08-25T14:44:51+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" . }