@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:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_head { this: np:hasAssertion dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_assertion; np:hasProvenance dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_provenance; np:hasPublicationInfo dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_publicationInfo; a np:Nanopublication . dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_assertion a np:Assertion . dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_provenance a np:Provenance . dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_publicationInfo a np:PublicationInfo . } dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_assertion { miriam-gene:4942 a ncit:C16612 . lld:C1285162 a ncit:C7057 . dgn-gda:DGNa808fc45d704c4c72f33866a2d3c31ce sio:SIO_000628 miriam-gene:4942, lld:C1285162; a sio:SIO_001121 . } dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_provenance { dgn-np:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_assertion dcterms:description "[A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye.]. 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:1609808; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP540090.RAP8l_sl6dmxrVCGlp7ZhIm0ySouakhfs_QFMrpxoyxLo130_publicationInfo { this: dcterms:created "2014-10-02T12:37:25+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" . }