http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_head http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_assertion http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_provenance http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_assertion http://identifiers.org/ncbigene/5311 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/DGN22744f2a09cd827e35c72dce4e79c78f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5311 http://rdf.disgenet.org/resource/gda/DGN22744f2a09cd827e35c72dce4e79c78f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2316810 http://rdf.disgenet.org/resource/gda/DGN22744f2a09cd827e35c72dce4e79c78f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_provenance http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_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/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_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/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23496908 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_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/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/dc/terms/created 2016-05-13T12:49:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1060687.RAQsrGxuH6Ne-_BEB0_q4YHd6dcJAr9w1fzjYWJaNWEVw 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