@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:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_head { this: np:hasAssertion dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_assertion; np:hasProvenance dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_provenance; np:hasPublicationInfo dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_publicationInfo; a np:Nanopublication . dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_assertion a np:Assertion . dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_provenance a np:Provenance . dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_publicationInfo a np:PublicationInfo . } dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_assertion { miriam-gene:1545 a ncit:C16612 . lld:C0017601 a ncit:C7057 . dgn-gda:DGN07eee7470d5aec1c8f71970e517c330d sio:SIO_000628 miriam-gene:1545, lld:C0017601; a sio:SIO_001121 . } dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_provenance { dgn-np:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_assertion dcterms:description "[To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New Zealand Registry of Advanced Glaucoma.]. 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:25750510; 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:NP1269524.RAcQVpkyx8LT3MDEYRJItAW2a0mlE1ua6pycwsv_ZgaTY130_publicationInfo { this: dcterms:created "2016-05-13T12:51:21+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" . }