http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_head http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_provenance http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion http://identifiers.org/ncbigene/10947 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/DGN84d5229ef360b86a272c51684bc963f6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10947 http://rdf.disgenet.org/resource/gda/DGN84d5229ef360b86a272c51684bc963f6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014544 http://rdf.disgenet.org/resource/gda/DGN84d5229ef360b86a272c51684bc963f6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_provenance http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion http://purl.org/dc/terms/description [Although the present study failed to identify the possible AP3M2 mutations that may cause epilepsy, our results suggest that some AP3M2 mutations still remain candidates for unmapped disorders including epilepsy, febrile seizure, and other neuronal developmental disorders associated with functional abnormalities of GABAergic transmission.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_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/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17293072 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_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/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/dc/terms/created 2016-05-13T12:46:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4 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