@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:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_head { this: np:hasAssertion dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_assertion; np:hasProvenance dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_provenance; np:hasPublicationInfo dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_publicationInfo; a np:Nanopublication . dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_assertion a np:Assertion . dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_provenance a np:Provenance . dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_publicationInfo a np:PublicationInfo . } dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_assertion { miriam-gene:5311 a ncit:C16612 . lld:C0022680 a ncit:C7057 . dgn-gda:DGN6c9c17e35c995cdb220c1019ba490afc sio:SIO_000628 miriam-gene:5311, lld:C0022680; a sio:SIO_001122 . } dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_provenance { dgn-np:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_assertion dcterms:description "[ In this study in the Czech population we identified 22 mutations (six of which were new mutations). The prevalence of PKD2 cases was 18-20% and the mean age of ESRF was 68.3 years. An at-least weak hot spot in exon 1 of the PKD2 gene was found.]. 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:14993477; prov:wasDerivedFrom dgn-void:gad-20150221; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^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:NP84071.RAZKMO46vEQ8z4g0vQFxcPuQX-Jqv8Ihmy4E1tdNahKh8130_publicationInfo { this: dcterms:created "2016-05-13T12:42:26+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" . }