http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_head http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_assertion http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_provenance http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_assertion http://identifiers.org/ncbigene/57465 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/C0543888 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/DGN0ea661ffffee2ae26f1d375c4734bb49 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57465 http://rdf.disgenet.org/resource/gda/DGN0ea661ffffee2ae26f1d375c4734bb49 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0543888 http://rdf.disgenet.org/resource/gda/DGN0ea661ffffee2ae26f1d375c4734bb49 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_provenance http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_assertion http://purl.org/dc/terms/description [Previously, six recessive mutations in TBC1D24 were reported to cause seizures (hearing loss was not reported) ranging in severity from epilepsy with otherwise normal development to epileptic encephalopathy resulting in childhood death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_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/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24387994 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_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/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/dc/terms/created 2016-05-13T12:50:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1141646.RAvgF12Vo5vrsebDeX7hqE-ijlZXKGKdmOjL1wZAfEkng 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