@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:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_head { this: np:hasAssertion dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_assertion; np:hasProvenance dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_provenance; np:hasPublicationInfo dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_publicationInfo; a np:Nanopublication . dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_assertion a np:Assertion . dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_provenance a np:Provenance . dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_publicationInfo a np:PublicationInfo . } dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_assertion { miriam-gene:59 a ncit:C16612 . lld:C0002940 a ncit:C7057 . dgn-gda:DGN2f58f424f97f0ab629ef75a2db5ca94f sio:SIO_000628 miriam-gene:59, lld:C0002940; a sio:SIO_001121 . } dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_provenance { dgn-np:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_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:NP1133070.RAky31ni2w8ADfdnDmhLGF89psNWNhQYO1I2clknlBYZs130_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" . }