http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_head http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_assertion http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_provenance http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_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/C0015625 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/DGN0eaefb3eb7de6b582193d216f510692f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4292 http://rdf.disgenet.org/resource/gda/DGN0eaefb3eb7de6b582193d216f510692f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0015625 http://rdf.disgenet.org/resource/gda/DGN0eaefb3eb7de6b582193d216f510692f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_provenance http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_assertion http://purl.org/dc/terms/description [Using targeted capture and massively parallel genomic sequencing, 151 subjects with USC were assessed for germline mutations in 30 tumor suppressor genes, including BRCA1 (breast cancer 1, early onset), BRCA2, the DNA mismatch repair genes (MLH1 [mutL homolog 1], MSH2 [mutS homolog 2], MSH6, PMS2 [postmeiotic segregation increased 2]), TP53 (tumor protein p53), and 10 other genes in the Fanconi anemia-BRCA pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_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/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22811390 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_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/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/dc/terms/created 2016-05-13T12:49:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP998663.RA8HlrRmpqwmOkTpHn4vyo9YSy3qyelRJeBid3eA3qvPo 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