@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:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_head { this: np:hasAssertion dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_assertion; np:hasProvenance dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_provenance; np:hasPublicationInfo dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_publicationInfo; a np:Nanopublication . dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_assertion a np:Assertion . dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_provenance a np:Provenance . dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_publicationInfo a np:PublicationInfo . } dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_assertion { miriam-gene:2108 a ncit:C16612 . lld:C0085584 a ncit:C7057 . dgn-gda:DGN795c01ab576592625fe18cce005b97ca sio:SIO_000628 miriam-gene:2108, lld:C0085584; a sio:SIO_001121 . } dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_provenance { dgn-np:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_assertion dcterms:description "[To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA).]. 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:16183799; 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:NP514944.RALgo5lWfFB2h0aNOs-mPcHS1nukYPBY37YLDIpjiYLns130_publicationInfo { this: dcterms:created "2016-05-13T12:45:38+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" . }