@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:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_head { this: np:hasAssertion dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_assertion; np:hasProvenance dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_provenance; np:hasPublicationInfo dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_publicationInfo; a np:Nanopublication . dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_assertion a np:Assertion . dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_provenance a np:Provenance . dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_publicationInfo a np:PublicationInfo . } dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_assertion { miriam-gene:59 a ncit:C16612 . lld:C0948008 a ncit:C7057 . dgn-gda:DGN99e3aa51228634ce6757d09654c91c3e sio:SIO_000628 miriam-gene:59, lld:C0948008; a sio:SIO_001121 . } dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_provenance { dgn-np:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_assertion dcterms:description "[We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and provide high resolution imaging of the cerebral arteries demonstrating novel findings of multiple tiny aneurysms (particularly in the posterior circulation), as well as the more characteristic imaging phenotype of straightened and narrowed proximal intracranial vessels, dilated cervical vessels and occlusion of the M1 MCA segment without lenticulostriate collateral formation.]. 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:24293535; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1133068.RApIdS8Bw2CKHLV1HR96qL1X402IbYN58Fe84y9fsJDn0130_publicationInfo { this: dcterms:created "2016-05-13T12:50:20+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }