@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:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_head { this: np:hasAssertion dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_assertion; np:hasProvenance dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_provenance; np:hasPublicationInfo dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_publicationInfo; a np:Nanopublication . dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_assertion a np:Assertion . dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_provenance a np:Provenance . dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_publicationInfo a np:PublicationInfo . } dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_assertion { miriam-gene:4653 a ncit:C16612 . lld:C0020302 a ncit:C7057 . dgn-gda:DGN6495baad8be440e6d01b3dcfb4989cf0 sio:SIO_000628 miriam-gene:4653, lld:C0020302; a sio:SIO_001121 . } dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_provenance { dgn-np:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_assertion dcterms:description "[This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected.]. 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:11774072; 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:NP587559.RAQqF4-2feZ--MJTowm4LhlWBoAAhysQXWow6ooj7S50E130_publicationInfo { this: dcterms:created "2014-10-02T12:37:53+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" . }