@prefix dcterms: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_head { this: np:hasAssertion dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_assertion; np:hasProvenance dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_provenance; np:hasPublicationInfo dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_publicationInfo; a np:Nanopublication . dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_assertion a np:Assertion . dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_provenance a np:Provenance . dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_publicationInfo a np:PublicationInfo . } dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_assertion { miriam-gene:540 a ncit:C16612 . lld:C0019202 a ncit:C7057 . dgn-gda:DGNaf17f665b931fc06aafb106bdeda10b7 sio:SIO_000628 miriam-gene:540, lld:C0019202; a sio:SIO_001121 . } dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_provenance { dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_assertion dcterms:description "[These examples illustrate how impaired regulation of copper transport pathways can cause organ damage and provide important insights into the impact of defects in specific molecular processes, including those catalyzed by the copper-transporting ATPases, ATP7A (mutated in Menkes disease), ATP7B (Wilson's disease), and the copper chaperones such as those for cytochrome c oxidase, SCO1 and SCO2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:22455587; prov:wasDerivedFrom dgn-void:ctd_human-20130708; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP9443.RABVjcBQ_JsN9i7OdqvL8tWJc7xz6IfYVJvokvCEnp4EE130_publicationInfo { this: dcterms:created "2014-10-02T12:32:02+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }