@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:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_head { this: np:hasAssertion dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_assertion; np:hasProvenance dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_provenance; np:hasPublicationInfo dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_publicationInfo; a np:Nanopublication . dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_assertion a np:Assertion . dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_provenance a np:Provenance . dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_publicationInfo a np:PublicationInfo . } dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_assertion { miriam-gene:2717 a ncit:C16612 . lld:C0031069 a ncit:C7057 . dgn-gda:DGN5394a2189204e6d08de9c4e04fb317df sio:SIO_000628 miriam-gene:2717, lld:C0031069; a sio:SIO_001121 . } dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_provenance { dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_assertion dcterms:description "[We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD.]. 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:22905681; 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:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_publicationInfo { this: dcterms:created "2014-10-02T12:34:14+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" . }