http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_head http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_provenance http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion http://identifiers.org/ncbigene/4292 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/C1333990 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/DGNf6b992cec8fe017e9fb2e0c8bcbc8c31 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4292 http://rdf.disgenet.org/resource/gda/DGNf6b992cec8fe017e9fb2e0c8bcbc8c31 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1333990 http://rdf.disgenet.org/resource/gda/DGNf6b992cec8fe017e9fb2e0c8bcbc8c31 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_provenance http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion http://purl.org/dc/terms/description [A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, MSH2, MLH1, MSH6, and PMS2, identified 48 genomic rearrangements causative of this inherited predisposition to colorectal cancer in 68 unrelated kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_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/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15942939 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_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/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/dc/terms/created 2016-05-13T12:45:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994 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