@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:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_head { this: np:hasAssertion dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_assertion; np:hasProvenance dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_provenance; np:hasPublicationInfo dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_publicationInfo; a np:Nanopublication . dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_assertion a np:Assertion . dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_provenance a np:Provenance . dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_publicationInfo a np:PublicationInfo . } dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_assertion { miriam-gene:7439 a ncit:C16612 . lld:C2678493 a ncit:C7057 . dgn-gda:DGNfabddac0758a983e157966d19a31d309 sio:SIO_000628 miriam-gene:7439, lld:C2678493; a sio:SIO_001121 . } dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_provenance { dgn-np:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_assertion dcterms:description "[We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram.]. 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:18179881; 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:NP525720.RAafy2h-z3cHwjFyiCy3xO6l0tk20N_pFYNcY3pXetcrA130_publicationInfo { this: dcterms:created "2014-10-02T12:37:15+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" . }