http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_head http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_provenance http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion http://identifiers.org/ncbigene/2678 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/C0006826 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/gene-disease-association.ttl#DGNaa0b23622073c18bcf4088e4913060ff http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2678 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaa0b23622073c18bcf4088e4913060ff http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0006826 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaa0b23622073c18bcf4088e4913060ff http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_provenance http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion http://purl.org/dc/terms/description [Of the MSI cancers containing the PTEN mutation, case 36 had a missense mutation from Lys (AAA) to Glu (GAA) at codon 254, case 43 contained a frameshift mutation (one A deletion) in a 6 bp poly(A) tract affecting codon 265-267, and case 64 harbored two missense mutations from Val (GTG) to Ala (GCG) at codon 222, and from Gly (GGA) to Arg (AGA) at codon 230 indicating biallelic mutation of PTEN.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12370746 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/dc/terms/created 2014-10-02T12:39:38+02:00 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0