http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_head http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_assertion http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_provenance http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_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/C0543888 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/DGN445f7d94ed18ac6e49227f43176ecc38 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6323 http://rdf.disgenet.org/resource/gda/DGN445f7d94ed18ac6e49227f43176ecc38 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0543888 http://rdf.disgenet.org/resource/gda/DGN445f7d94ed18ac6e49227f43176ecc38 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_provenance http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_assertion http://purl.org/dc/terms/description [More than 200 mutations in the Nav1.1 alpha subtype have been linked to inherited epilepsy syndromes, ranging in severity from the comparatively mild disorder Generalized Epilepsy with Febrile Seizures Plus to the epileptic encephalopathy Severe Myoclonic Epilepsy of Infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_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/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18342948 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_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/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/dc/terms/created 2016-05-13T12:46:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP660845.RARMjEtYZYEaoZzyI4tQVeQ-lvtErRh4AtwPo2cSuOIvU 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