http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#head http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#assertion http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#provenance http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#assertion http://rdf.disgenet.org/resource/gda/DGN784638376551833e5b3d1960064c9bb3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5310 http://rdf.disgenet.org/resource/gda/DGN784638376551833e5b3d1960064c9bb3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022680 http://rdf.disgenet.org/resource/gda/DGN784638376551833e5b3d1960064c9bb3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#provenance http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#assertion http://purl.org/dc/terms/description [Here, we provide a comprehensive review of these significant advances as well as those related to disease pathogenesis models, including mutation analysis of PKD1 and PKD2 (encoding polycystin 2), current mutation detection rate, allelic heterogeneity, genotype and phenotype relationships (in terms of three different inheritance patterns: classical autosomal dominant inheritance, complex inheritance, and somatic and germline mosaicism), modifier genes, the role of second somatic mutation hit in renal cystogenesis, and findings from mouse models of polycystic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25263802 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/dc/terms/created 2017-10-17T13:15:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP824226.RAVFGUiekY1om8rN7OcVAtuZ70R_eU2GYLnpbbWn6pUuM http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0