http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_head http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion http://identifiers.org/ncbigene/84679 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/C0034345 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/DGN35b672b1748ae4f98ed215689f8c9f23 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/84679 http://rdf.disgenet.org/resource/gda/DGN35b672b1748ae4f98ed215689f8c9f23 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0034345 http://rdf.disgenet.org/resource/gda/DGN35b672b1748ae4f98ed215689f8c9f23 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion http://purl.org/dc/terms/description [Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine-5-phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_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/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25818041 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_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/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/dc/terms/created 2016-05-13T12:51:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY 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