http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_head http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_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/C0009952 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/gene-disease-association.ttl#DGN4ced9033440d7a75309a599515a1087e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6326 http://rdf.disgenet.org/gene-disease-association.ttl#DGN4ced9033440d7a75309a599515a1087e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009952 http://rdf.disgenet.org/gene-disease-association.ttl#DGN4ced9033440d7a75309a599515a1087e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_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/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16302874 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/dc/terms/created 2014-10-02T12:35:36+02:00 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP369631.RAQiGb3H3oqJOiwr8tMZWNJXUrZCIjzQMmZSz2_iK_iRw http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0