http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#head http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#assertion http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#provenance http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#assertion http://rdf.disgenet.org/resource/gda/DGN32f01ab1d90bade4bafd7a2d78b2c4a2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7157 http://rdf.disgenet.org/resource/gda/DGN32f01ab1d90bade4bafd7a2d78b2c4a2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3536893 http://rdf.disgenet.org/resource/gda/DGN32f01ab1d90bade4bafd7a2d78b2c4a2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#provenance http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#assertion http://purl.org/dc/terms/description [Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#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/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25010205 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#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/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/dc/terms/created 2017-10-17T13:16:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1052162.RAxdm1eqDps_o6Kk30zn7q0lZZyWNaJJzjkyIlkwKbGG4 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