http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_head http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_assertion http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_provenance http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_assertion http://identifiers.org/ncbigene/152330 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/C0036572 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/DGNc6ef0add3f1002766816913633ade956 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/152330 http://rdf.disgenet.org/resource/gda/DGNc6ef0add3f1002766816913633ade956 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0036572 http://rdf.disgenet.org/resource/gda/DGNc6ef0add3f1002766816913633ade956 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_provenance http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_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/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_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/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18179895 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_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/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/dc/terms/created 2016-05-13T12:46:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP648731.RAjEWaLeq7DPdgnOPk1JJCjNSbL4hQEyW2hpUWVBYBqmU 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