http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_head http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_assertion http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_provenance http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_assertion http://identifiers.org/ncbigene/6792 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/DGNb0e3b0a2371844a049b7ee1e08c0773f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6792 http://rdf.disgenet.org/resource/gda/DGNb0e3b0a2371844a049b7ee1e08c0773f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014544 http://rdf.disgenet.org/resource/gda/DGNb0e3b0a2371844a049b7ee1e08c0773f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_provenance http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_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/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_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/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23647072 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_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/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/dc/terms/created 2016-05-13T12:49:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1075271.RAO58IhoeqhBJpfPzDHmQLdcLB1dWzvaALVwXebP1SJhg 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