http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#head http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#assertion http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#provenance http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#assertion http://rdf.disgenet.org/resource/gda/DGN5147aef8e4e106b51728ff458cf2f06a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/672 http://rdf.disgenet.org/resource/gda/DGN5147aef8e4e106b51728ff458cf2f06a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0015625 http://rdf.disgenet.org/resource/gda/DGN5147aef8e4e106b51728ff458cf2f06a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#provenance http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#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/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#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/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22811390 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#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/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/dc/terms/created 2017-10-17T13:11:02+02:00 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP132055.RANtPXlIGXIDEo57fQjHpGGWP3vaYeFdymSuOMjYc7a98 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