@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:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_head { this: np:hasAssertion dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_assertion; np:hasProvenance dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_provenance; np:hasPublicationInfo dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_publicationInfo; a np:Nanopublication . dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_assertion a np:Assertion . dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_provenance a np:Provenance . dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_publicationInfo a np:PublicationInfo . } dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_assertion { miriam-gene:668 a ncit:C16612 . lld:C0423113 a ncit:C7057 . dgn-gda:DGNea1ab4f78aad320770f5ee4fec2d0c00 sio:SIO_000628 miriam-gene:668, lld:C0423113; a sio:SIO_001121 . } dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_provenance { dgn-np:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_assertion dcterms:description "[Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome), growth and mental retardation, microcephaly ear and nose dysmorphism and joint and digit abnormalities.]. 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:9266197; 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:NP1379069.RAr89AmHYUd_GG-5P_GikdHdR8fELqbG7ltFqqLn7kxrU130_publicationInfo { this: dcterms:created "2016-05-13T12:52:11+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" . }