@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:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_head { this: np:hasAssertion dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_assertion; np:hasProvenance dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_provenance; np:hasPublicationInfo dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_publicationInfo; a np:Nanopublication . dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_assertion a np:Assertion . dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_provenance a np:Provenance . dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_publicationInfo a np:PublicationInfo . } dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_assertion { miriam-gene:100528024 a ncit:C16612 . lld:C0003076 a ncit:C7057 . dgn-gda:DGN4083398d60892718ade45b0a69d0bd90 sio:SIO_000628 miriam-gene:100528024, lld:C0003076; a sio:SIO_001121 . } dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_provenance { dgn-np:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_assertion dcterms:description "[Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band.]. 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:6325323; 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:NP932582.RA9LoYaDr-v0lBAG9_Se3mxF9sJLF3Gq95-MbZj6oVdtM130_publicationInfo { this: dcterms:created "2014-10-02T12:41:31+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" . }