http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_head http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_assertion http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_provenance http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_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/C0220669 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/DGN2753524bf8346cde85b0fded0d629dee http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6323 http://rdf.disgenet.org/resource/gda/DGN2753524bf8346cde85b0fded0d629dee http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0220669 http://rdf.disgenet.org/resource/gda/DGN2753524bf8346cde85b0fded0d629dee http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_provenance http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_assertion http://purl.org/dc/terms/description [Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_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/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19464834 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_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/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/dc/terms/created 2016-05-13T12:47:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP740708.RACo1i9KQYwEHjBJbt4CMlltjUKkV1Ek0FHPYdCWAPLj8 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