http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_head http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_provenance http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion http://identifiers.org/ncbigene/1285 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/C0022658 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/DGN5b9dc3b243b7c14da803159ab588e0b6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1285 http://rdf.disgenet.org/resource/gda/DGN5b9dc3b243b7c14da803159ab588e0b6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022658 http://rdf.disgenet.org/resource/gda/DGN5b9dc3b243b7c14da803159ab588e0b6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_provenance http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion http://purl.org/dc/terms/description [We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as the only clinical manifestation, suggesting that in this family deafness can occur independent of renal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_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/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25450602 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_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/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/dc/terms/created 2016-05-13T12:51:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4 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