http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_head http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_assertion http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_provenance http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_assertion http://identifiers.org/ncbigene/59 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C3272363 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN1631be64fa2a0daec3bc8c5e91bfad3b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/59 http://rdf.disgenet.org/resource/gda/DGN1631be64fa2a0daec3bc8c5e91bfad3b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3272363 http://rdf.disgenet.org/resource/gda/DGN1631be64fa2a0daec3bc8c5e91bfad3b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_provenance http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24293535 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/dc/terms/created 2015-08-25T14:39:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP221559.RAEg0mW2GFvzro66ti7sf3hNHpSrY0LbHGLTYItILNyyk http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0