http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_head http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_assertion http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_provenance http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_assertion http://identifiers.org/ncbigene/859 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/C0025362 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#DGNb59f39387638804750bfd0b959457804 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/859 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb59f39387638804750bfd0b959457804 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0025362 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb59f39387638804750bfd0b959457804 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_provenance http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_assertion http://purl.org/dc/terms/description [Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_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#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21082655 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_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#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_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#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/dc/terms/created 2014-10-02T12:39:23+02:00 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP731138.RAoH2u9T0wbmfvw40I5B571oeXpaiiaNfVnwy90NPY0So 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