http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_head http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_assertion http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_provenance http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_assertion http://identifiers.org/ncbigene/1917 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/C0014544 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/DGNe8079205d3c6b996191dfb673a1ab2ad http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1917 http://rdf.disgenet.org/resource/gda/DGNe8079205d3c6b996191dfb673a1ab2ad http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014544 http://rdf.disgenet.org/resource/gda/DGNe8079205d3c6b996191dfb673a1ab2ad http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_provenance http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_assertion http://purl.org/dc/terms/description [Four probands had de novo mutations in genes previously shown to harbor heterozygous mutations in patients with severe, early onset epilepsies (two in SCN1A, and one each in CDKL5 and EEF1A2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_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/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23647072 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_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/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/dc/terms/created 2016-05-13T12:49:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1075273.RAH9ZPR8JHwNvu4uUCHm8e0WS5G01iYxzCZmPUqV3on4I 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