@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:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_head { this: np:hasAssertion dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_assertion; np:hasProvenance dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_provenance; np:hasPublicationInfo dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_publicationInfo; a np:Nanopublication . dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_assertion a np:Assertion . dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_provenance a np:Provenance . dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_publicationInfo a np:PublicationInfo . } dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_assertion { miriam-gene:5428 a ncit:C16612 . lld:C0393571 a ncit:C7057 . dgn-gda:DGN9b33827f3ebad2d5007ee7adb27c34c2 sio:SIO_000628 miriam-gene:5428, lld:C0393571; a sio:SIO_001121 . } dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_provenance { dgn-np:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_assertion dcterms:description "[This case expands the spectrum of phenotypes associated with POLG1 mutations to include multiple system atrophy and prompts further consideration regarding whether routine screening for POLG1 mutations is indicated in this patient population.]. 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:21259344; 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:NP867231.RAfKsdR-SIf6mU9VxkoaYJu-rOSo5DfErLPssmIgBhW1Y130_publicationInfo { this: dcterms:created "2016-05-13T12:48:17+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" . }