@prefix dc: . @prefix orcid: . @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:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_head { this: np:hasAssertion dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_assertion; np:hasProvenance dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_provenance; np:hasPublicationInfo dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_publicationInfo; a np:Nanopublication . dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_assertion a np:Assertion . dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_provenance a np:Provenance . dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_publicationInfo a np:PublicationInfo . } dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_assertion { miriam-gene:5498 a ncit:C16612 . lld:C0162532 a ncit:C7057 . dgn-gda:DGN9f45f82ba2d6ba86b2759ee3317b711c sio:SIO_000628 miriam-gene:5498, lld:C0162532; a sio:SIO_001122 . } dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_provenance { dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_assertion dc:description "[Two new mutations that predicted amino acid substitutions with significant effects on enzyme function were detected in conserved regions of the protoporphyrinogen oxidase gene in one Aboriginal variegate porphyria patient and the possible fourth case.]. 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:12380696; prov:wasDerivedFrom dgn-void:uniprot-20150221; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20150221 pav:importedOn "2015-02-21"^^xsd:date . } dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_publicationInfo { this: dc:created "2015-08-25T14:37:43+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }