http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_head http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_assertion http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_provenance http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_assertion http://identifiers.org/ncbigene/5587 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C2316810 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN5111bf07ac2c6ee2c7ca3fc565e1d41f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5587 http://rdf.disgenet.org/resource/gda/DGN5111bf07ac2c6ee2c7ca3fc565e1d41f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2316810 http://rdf.disgenet.org/resource/gda/DGN5111bf07ac2c6ee2c7ca3fc565e1d41f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_provenance http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23496908 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/dc/terms/created 2016-05-13T12:49:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1060695.RArzT_vyQtvJ_qO-1UVeC3mT8NhmWgjE-pAI892jFDBNc http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0