http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_head http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_assertion http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_provenance http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_assertion http://identifiers.org/ncbigene/6323 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/DGN1d13d85ffec487f468e9b83b93c1cd45 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6323 http://rdf.disgenet.org/resource/gda/DGN1d13d85ffec487f468e9b83b93c1cd45 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014544 http://rdf.disgenet.org/resource/gda/DGN1d13d85ffec487f468e9b83b93c1cd45 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_provenance http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_assertion http://purl.org/dc/terms/description [Severe Myoclonic Epilepsy in Infancy (SMEI) is an intractable epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_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/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16430863 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_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/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/dc/terms/created 2016-05-13T12:45:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP532421.RAqekNl5E0TW8YqPaxb8RuzUuFR-Biw1D53oH7gOoq150 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