@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:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_head { this: np:hasAssertion dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_assertion; np:hasProvenance dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_provenance; np:hasPublicationInfo dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_publicationInfo; a np:Nanopublication . dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_assertion a np:Assertion . dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_provenance a np:Provenance . dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_assertion { miriam-gene:54982 a ncit:C16612 . lld:C0524851 a ncit:C7057 . dgn-gda:DGN8b42ac8004d1b32fe27b959991d0c1bd sio:SIO_000628 miriam-gene:54982, lld:C0524851; a sio:SIO_001121 . } dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_provenance { dgn-np:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_assertion dcterms:description "[This study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of NCL and further highlights the key contribution of deregulated biometal trafficking to the pathology of neurodegenerative diseases.]. 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:24581221; 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:NP1158953.RAO2TszWY-aapY2qWR0XPnzTrfjqda9FIbaZZzxFt0ZmA130_publicationInfo { this: dcterms:created "2016-05-13T12:50:31+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" . }