http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_head http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_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/C0751122 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/DGN4103cb4d20d824b3dc04d47b4c13bd97 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6323 http://rdf.disgenet.org/resource/gda/DGN4103cb4d20d824b3dc04d47b4c13bd97 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751122 http://rdf.disgenet.org/resource/gda/DGN4103cb4d20d824b3dc04d47b4c13bd97 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_assertion http://purl.org/dc/terms/description [In order to further investigate the role of SCN1A and GABRG2 in the pathogenesis of SMEI we have screened for mutations three families with at least two members affected by Dravet syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_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/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12773292 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_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/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/dc/terms/created 2016-05-13T12:44:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP396087.RANahgbZyyz8YIQFj3SH8yS0ht9MD34OGRvFwCWAPbMBQ 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