http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#head http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#assertion http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#provenance http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#assertion http://rdf.disgenet.org/resource/gda/DGNac09b9559e03eb974a3203284dd53933 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/59 http://rdf.disgenet.org/resource/gda/DGNac09b9559e03eb974a3203284dd53933 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0948008 http://rdf.disgenet.org/resource/gda/DGNac09b9559e03eb974a3203284dd53933 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#provenance http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#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/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24353327 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/dc/terms/created 2017-10-17T13:10:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP10637.RAEg3-D6pFyiZ5s3hZrWzl5_jNi4paj_r6ESxSKsn9hKM http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0