http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_head http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_provenance http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion http://identifiers.org/ncbigene/6326 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/C0014550 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/DGNff0ce0f26ea51b86f143a9aae7d6e33a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6326 http://rdf.disgenet.org/resource/gda/DGNff0ce0f26ea51b86f143a9aae7d6e33a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014550 http://rdf.disgenet.org/resource/gda/DGNff0ce0f26ea51b86f143a9aae7d6e33a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_provenance http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion http://purl.org/dc/terms/description [De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_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/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16302874 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_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/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/dc/terms/created 2016-05-13T12:45:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0 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