@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:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_head { this: np:hasAssertion dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_assertion; np:hasProvenance dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_provenance; np:hasPublicationInfo dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_publicationInfo; a np:Nanopublication . dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_assertion a np:Assertion . dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_provenance a np:Provenance . dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_publicationInfo a np:PublicationInfo . } dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_assertion { miriam-gene:113246 a ncit:C16612 . lld:C0009363 a ncit:C7057 . dgn-gda:DGNece3cdd38bb42e8e17bf624e1b6340a1 sio:SIO_000628 miriam-gene:113246, lld:C0009363; a sio:SIO_001121 . } dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_provenance { dgn-np:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_assertion dcterms:description "[This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1.]. 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:24859618; 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:NP1185390.RAeo6peH4_6l22U6tmtAnvUJMGQ0-9kvH14P-IYF2FB2E130_publicationInfo { this: dcterms:created "2016-05-13T12:50:43+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" . }