http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_head http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_assertion http://identifiers.org/ncbigene/5310 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/C0022661 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/DGNecd6a8f96e4fd5d64a48d13b08794346 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5310 http://rdf.disgenet.org/resource/gda/DGNecd6a8f96e4fd5d64a48d13b08794346 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022661 http://rdf.disgenet.org/resource/gda/DGNecd6a8f96e4fd5d64a48d13b08794346 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_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/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23496908 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/dc/terms/created 2015-08-25T14:43:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP626694.RAAvFaRmOgz0aQii4YLeSlRcQoucilCijFfa4ey-lXqwQ http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0