@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:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_head { this: np:hasAssertion dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_assertion; np:hasProvenance dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_provenance; np:hasPublicationInfo dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_publicationInfo; a np:Nanopublication . dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_assertion a np:Assertion . dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_provenance a np:Provenance . dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_publicationInfo a np:PublicationInfo . } dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_assertion { miriam-gene:2235 a ncit:C16612 . lld:C0162530 a ncit:C7057 . dgn-gda:DGNba8a221ca1bdcd8b5f4ddc9a6a9e8292 sio:SIO_000628 miriam-gene:2235, lld:C0162530; a sio:SIO_001121 . } dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_provenance { dgn-np:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_assertion dcterms:description "[These advances have also led to the identification of causative genetic defects in patients who, based on molecular studies, had no mutations in the uroporphyrinogen III synthase gene UROS (in CEP) or in the ferrochelatase gene FECH (in EPP).]. 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:22766189; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP397859.RAlVRqR-LgfR_gkxTSu7NfxnrfVySVEFNqpJYTSrLCS4I130_publicationInfo { this: dcterms:created "2015-08-25T14:41:31+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }