@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:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_head { this: np:hasAssertion dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_assertion; np:hasProvenance dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_provenance; np:hasPublicationInfo dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_publicationInfo; a np:Nanopublication . dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_assertion a np:Assertion . dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_provenance a np:Provenance . dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_publicationInfo a np:PublicationInfo . } dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_assertion { miriam-gene:10564 a ncit:C16612 . lld:C0025958 a ncit:C7057 . dgn-gda:DGN315fc078b5274b263295ed72b4c0abd4 sio:SIO_000628 miriam-gene:10564, lld:C0025958; a sio:SIO_001121 . } dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_provenance { dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_assertion dcterms:description "[The presence of periventricular heterotopia, acquired microcephaly and suspected recessive inheritance led to mutation analysis of ARFGEF2 in two affected siblings and their healthy consanguineous parents, after mutations in FLNA had been ruled out.]. 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:23755938; 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:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_publicationInfo { this: dcterms:created "2015-08-25T14:46:14+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" . }