http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_head http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_assertion http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_provenance http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_assertion http://identifiers.org/ncbigene/7380 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/C0042580 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/gene-disease-association.ttl#DGN8e296e78cdde7e6ef1852cdcdf1bf86d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7380 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8e296e78cdde7e6ef1852cdcdf1bf86d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0042580 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8e296e78cdde7e6ef1852cdcdf1bf86d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_provenance http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_assertion http://purl.org/dc/terms/description [ Such a weak association and the lack of families with simple dominant Mendelian inheritance suggest that missense changes of uroplakin genes cannot play a dominant role in causing VUR in humans, although they may be weak risk factors contributing to a complex polygenic disease. The fact that no truncation or frame shift mutations have been found in any of the VUR patients, coupled with our recent finding that some breeding pairs of UP III knockout mice yield litters that show not only VUR, but also severe hydronephrosis and neonatal death, raises the possibility that major uroplakin mutations could be embryonically or postnatally lethal in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15200408 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://purl.org/pav/2.0/importedOn 2013-07-06 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/dc/terms/created 2014-10-02T12:32:27+02:00 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP58969.RAP7FkTKJT5pU-bUoJDt3zfBfdsXJGUUwfoGze2RBMm4U http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0