http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_head http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion http://identifiers.org/ncbigene/1482 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/C2717907 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/DGN7db72ea34f63266dcd8a163dd10192fa http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1482 http://rdf.disgenet.org/resource/gda/DGN7db72ea34f63266dcd8a163dd10192fa http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2717907 http://rdf.disgenet.org/resource/gda/DGN7db72ea34f63266dcd8a163dd10192fa http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion http://purl.org/dc/terms/description [ NKX2.5 mutation c.512insGC is associated with ASDs, syncope and sudden death. It is the second de novo mutation identified in NKX2.5. (2) NKX2.5 mutations are rare in sporadic CHD patients. (3) This study for the first time identifies association between]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_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/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20932824 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/gad-20150221 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/gad-20150221 http://purl.org/pav/importedOn 2015-02-21 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/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/dc/terms/created 2016-05-13T12:43:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ 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