@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:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_head { this: np:hasAssertion dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_assertion; np:hasProvenance dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_provenance; np:hasPublicationInfo dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_publicationInfo; a np:Nanopublication . dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_assertion a np:Assertion . dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_provenance a np:Provenance . dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_publicationInfo a np:PublicationInfo . } dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_assertion { miriam-gene:1261 a ncit:C16612 . lld:C0152200 a ncit:C7057 . dgn-gda:DGN7e84d4634510ddcc321cbeddfcb3cc66 sio:SIO_000628 miriam-gene:1261, lld:C0152200; a sio:SIO_001121 . } dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_provenance { dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_assertion dcterms:description "[CNGA3 mutations were detected not only in patients with the complete form of achromatopsia but also in incomplete achromats with residual cone photoreceptor function and (rarely) in patients with evidence for severe progressive cone dystrophy.]. 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:11536077; 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:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_publicationInfo { this: dcterms:created "2016-05-13T12:44:14+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" . }