@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:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_head { this: np:hasAssertion dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_assertion; np:hasProvenance dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_provenance; np:hasPublicationInfo dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_publicationInfo; a np:Nanopublication . dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_assertion a np:Assertion . dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_provenance a np:Provenance . dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_publicationInfo a np:PublicationInfo . } dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_assertion { miriam-gene:1371 a ncit:C16612 . lld:C0162531 a ncit:C7057 . dgn-gda:DGN5e8d4635e0e98ad5da3aa5c1e35e1ee2 sio:SIO_000628 miriam-gene:1371, lld:C0162531; a sio:SIO_001121 . } dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_provenance { dgn-np:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_assertion dcterms:description "[Her mother and both sisters could be verified as heterozygous gene carriers of hereditary coproporphyria by their urinary and fecal excretion parameters and because of reduced coproporphyrinogen oxidase activity up to 50%.]. 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:11929047; 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:NP350470.RAbBQ4dof0hekMbPih8cg1pMPAZq7lvGcsUN_1RVorSLg130_publicationInfo { this: dcterms:created "2016-05-13T12:44:24+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" . }