@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:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_head { this: np:hasAssertion dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_assertion; np:hasProvenance dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_provenance; np:hasPublicationInfo dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_publicationInfo; a np:Nanopublication . dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_assertion a np:Assertion . dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_provenance a np:Provenance . dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_publicationInfo a np:PublicationInfo . } dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_assertion { miriam-gene:4053 a ncit:C16612 . lld:C1533041 a ncit:C7057 . dgn-gda:DGN2935cd3d6a1460e1b89f73dc1155c470 sio:SIO_000628 miriam-gene:4053, lld:C1533041; a sio:SIO_001121 . } dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_provenance { dgn-np:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_assertion dcterms:description "[Microscopy was performed on the skin of a patient with PEX syndrome whose condition developed into PEX glaucoma during the course of the study and on the skin of her son previously identified with PCG who harbored the same LTBP2 mutation.]. 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:23401661; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP541085.RAtDkqbcowhJDwRx4X8sKrhZV1rkgUbt3jBH2f97ViL-s130_publicationInfo { this: dcterms:created "2015-08-25T14:43:00+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }