http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#head http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#assertion http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#provenance http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#assertion http://rdf.disgenet.org/resource/gda/DGNedad5fc3f9c80938ef81190074afd959 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6326 http://rdf.disgenet.org/resource/gda/DGNedad5fc3f9c80938ef81190074afd959 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009952 http://rdf.disgenet.org/resource/gda/DGNedad5fc3f9c80938ef81190074afd959 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#provenance http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#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/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16302874 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/dc/terms/created 2017-10-17T13:16:04+02:00 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP924648.RA29V63XKqM6bOV_xZOj5kmUEJ0YhrfvY3ulWO8QFLVP8 http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0