http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#head http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#assertion http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#provenance http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#assertion http://rdf.disgenet.org/resource/gda/DGN9c3f0522a72961f2d3c75f91d75cf94d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4625 http://rdf.disgenet.org/resource/gda/DGN9c3f0522a72961f2d3c75f91d75cf94d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007194 http://rdf.disgenet.org/resource/gda/DGN9c3f0522a72961f2d3c75f91d75cf94d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#provenance http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#assertion http://purl.org/dc/terms/description [Patients underwent clinical evaluation and mutation screening of 5 genes implicated in HCM (MYH7, MYBPC3, TPM1, TNNT2, and TNNI3) in genomic DNA isolated from resected cardiac tissue; 41 of 104 were found to carry a mutation, but as several patients carried the same mutations, the total amount of different mutations was 37; 20 of these mutations have been previously described, and pathogenicity has been assessed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#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/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23782526 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#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/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/dc/terms/created 2017-10-17T13:14:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP740035.RA18rrVC6fiaZohWbYJmEPsHCUfe721oSac2Tsw3u8510 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