@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:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_head { this: np:hasAssertion dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_assertion; np:hasProvenance dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_provenance; np:hasPublicationInfo dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_publicationInfo; a np:Nanopublication . dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_assertion a np:Assertion . dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_provenance a np:Provenance . dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_publicationInfo a np:PublicationInfo . } dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_assertion { miriam-gene:7439 a ncit:C16612 . lld:C2745945 a ncit:C7057 . dgn-gda:DGNdf456a79536e7812e36b04143f23ad18 sio:SIO_000628 miriam-gene:7439, lld:C2745945; a sio:SIO_001121 . } dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_provenance { dgn-np:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_assertion dcterms:description "[Subclinical Best VMD (absence of both symptoms and funduscopic lesions) in subjects with BEST1 mutation may vary from the absence of any morphologic and functional abnormalities to the presence of specific SD-OCT and EOG changes.]. 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:21436265; 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:NP588537.RATU_-Lt2BXbhXSytBGgS9Yg2FAo8mpfxsziYvkcfHyz8130_publicationInfo { this: dcterms:created "2014-10-02T12:37:54+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" . }