@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:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_head { this: np:hasAssertion dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_assertion; np:hasProvenance dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_provenance; np:hasPublicationInfo dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_publicationInfo; a np:Nanopublication . dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_assertion a np:Assertion . dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_provenance a np:Provenance . dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_publicationInfo a np:PublicationInfo . } dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_assertion { miriam-gene:114548 a ncit:C16612 . lld:C0031069 a ncit:C7057 . dgn-gda:DGNcc4e7caffb1d53831753494c300f61a7 sio:SIO_000628 miriam-gene:114548, lld:C0031069; a sio:SIO_001121 . } dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_provenance { dgn-np:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_assertion dcterms:description "[To gain insight into the pathophysiology of an unusual autoinflammatory syndrome, in a patient of Armenian origin, that mimicked familial Mediterranean fever (FMF) but with episodes triggered by generalized exposure to cold, and to further elucidate the controversial function of the protein encoded by PYPAF1, whose mutations (exclusively missense to date) have been identified in 3 hereditary recurrent fever syndromes.]. 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:16447225; 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:NP719837.RASk39uuOy-waoHThz0XdE0xKw3PLDFvuCjK6_ngjtsiI130_publicationInfo { this: dcterms:created "2014-10-02T12:39:17+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" . }