@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:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_head { this: np:hasAssertion dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_assertion; np:hasProvenance dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_provenance; np:hasPublicationInfo dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_publicationInfo; a np:Nanopublication . dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_assertion a np:Assertion . dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_provenance a np:Provenance . dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_publicationInfo a np:PublicationInfo . } dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_assertion { miriam-gene:5311 a ncit:C16612 . lld:C0085413 a ncit:C7057 . dgn-gda:DGN9d0c58a1432acec52e49494ed28f66ef sio:SIO_000628 miriam-gene:5311, lld:C0085413; a sio:SIO_001122 . } dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_provenance { dgn-np:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_assertion dcterms:description "[A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene 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:23496908; 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:NP1060692.RA5XQjckAJJa30PjNXMRVbPpd3pR1DJxImPYdVU0ZhXBE130_publicationInfo { this: dcterms:created "2016-05-13T12:49:47+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" . }