http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_head http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_assertion http://identifiers.org/ncbigene/26047 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/C0004352 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/gene-disease-association.ttl#DGN4da17f1081e59019c0c5b9d13b20da7b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/26047 http://rdf.disgenet.org/gene-disease-association.ttl#DGN4da17f1081e59019c0c5b9d13b20da7b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004352 http://rdf.disgenet.org/gene-disease-association.ttl#DGN4da17f1081e59019c0c5b9d13b20da7b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_assertion http://purl.org/dc/terms/description [We focused our initial analysis on CNTNAP2 based on our demonstration of disruption of Contactin 4 (CNTN4) in a patient with ASD; the recent finding of rare homozygous mutations in CNTNAP2 leading to intractable seizures and autism; and in situ and biochemical analyses reported herein that confirm expression in relevant brain regions and demonstrate the presence of CNTNAP2 in the synaptic plasma membrane fraction of rat forebrain lysates.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18179895 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/dc/terms/created 2014-10-02T12:34:16+02:00 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP242912.RAz5pkLVZHYx5k5l5UX01KHUZzoZlWUylX-58HH3rlbSU http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0