http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#head http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#assertion http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#provenance http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#assertion http://rdf.disgenet.org/resource/gda/DGN6d2643d00d31b9b6b7397e853f150e30 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/672 http://rdf.disgenet.org/resource/gda/DGN6d2643d00d31b9b6b7397e853f150e30 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0006142 http://rdf.disgenet.org/resource/gda/DGN6d2643d00d31b9b6b7397e853f150e30 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#provenance http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#assertion http://purl.org/dc/terms/description [Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#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/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22889855 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#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/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/dc/terms/created 2017-10-17T13:11:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP127912.RArDfHk1aqh9WRQW6zaa5EXNtvgzJOjysO6U_KaWk0c4E 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