@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:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_head { this: np:hasAssertion dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_assertion; np:hasProvenance dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_provenance; np:hasPublicationInfo dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_publicationInfo; a np:Nanopublication . dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_assertion a np:Assertion . dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_provenance a np:Provenance . dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_assertion { miriam-gene:4094 a ncit:C16612 . lld:C1833118 a ncit:C7057 . dgn-gda:DGNe209a6fdaf54e87da979b2d7c7e09d20 sio:SIO_000628 miriam-gene:4094, lld:C1833118; a sio:SIO_001122 . } dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_provenance { dgn-np:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_assertion dcterms:description "[MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome).]. 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:25064449; 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:NP1205214.RAPB8oJ7uRNUavKcYh6sCYRMuJqmyd-32_bxEVNASdrxQ130_publicationInfo { this: dcterms:created "2016-05-13T12:50:52+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" . }