http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_head http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_assertion http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_provenance http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_assertion http://identifiers.org/ncbigene/6812 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/C2931919 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/DGN2e69f727352d06511e02bc11f88b5b86 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6812 http://rdf.disgenet.org/resource/gda/DGN2e69f727352d06511e02bc11f88b5b86 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931919 http://rdf.disgenet.org/resource/gda/DGN2e69f727352d06511e02bc11f88b5b86 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_provenance http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_assertion http://purl.org/dc/terms/description [Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_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/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21967765 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_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/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/dc/terms/created 2016-05-13T12:48:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP928170.RAhV3HsteLM64N8orvkfHhz6cEcf9MwgJnY6aq_rn32Vg 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