@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:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_head { this: np:hasAssertion dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_assertion; np:hasProvenance dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_provenance; np:hasPublicationInfo dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_publicationInfo; a np:Nanopublication . dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_assertion a np:Assertion . dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_provenance a np:Provenance . dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_publicationInfo a np:PublicationInfo . } dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_assertion { miriam-gene:7306 a ncit:C16612 . lld:C0078918 a ncit:C7057 . dgn-gda:DGNf28e9291e48469dd75c674647c8dcc8c sio:SIO_000628 miriam-gene:7306, lld:C0078918; a sio:SIO_001121 . } dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_provenance { dgn-np:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_assertion dcterms:description "[ROCA, which in southern African Blacks is caused by mutations in the TYRP1 gene, therefore should be referred to as OCA3, since this is the third locus that has been shown to cause an OCA phenotype in humans.]. 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:9345097; 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:NP1382692.RAmUAtaOWaYeGKWWVk0L8ZPQc3EdAvSkkFv2fUEuuoMAg130_publicationInfo { this: dcterms:created "2016-05-13T12:52:12+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" . }