http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_head http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_provenance http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion http://identifiers.org/ncbigene/3736 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/C0014544 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/DGNfc95005c91cc205c2521270bb2f7d2b4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3736 http://rdf.disgenet.org/resource/gda/DGNfc95005c91cc205c2521270bb2f7d2b4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014544 http://rdf.disgenet.org/resource/gda/DGNfc95005c91cc205c2521270bb2f7d2b4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_provenance http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion http://purl.org/dc/terms/description [In this case, the combination of de novo single nucleotide polymorphisms (SNPs) and CNVs in the SCN1A and KCNA1 genes, respectively, is suspected to be the principal risk factor for both epilepsy and premature death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_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/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24372310 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_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/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/dc/terms/created 2016-05-13T12:50:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns 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