http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_head http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion http://identifiers.org/ncbigene/1387 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/C0035372 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/DGN4295170206ca729fd135274cf8d070b2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1387 http://rdf.disgenet.org/resource/gda/DGN4295170206ca729fd135274cf8d070b2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0035372 http://rdf.disgenet.org/resource/gda/DGN4295170206ca729fd135274cf8d070b2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion http://purl.org/dc/terms/description [Because the patients are heterozygous for the mutations, we propose that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_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/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7630403 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_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/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/dc/terms/created 2016-05-13T12:51:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA 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