http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#head http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#assertion http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#provenance http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#assertion http://rdf.disgenet.org/resource/gda/DGN173ab16716374a62852c4e77588ecdf2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/26047 http://rdf.disgenet.org/resource/gda/DGN173ab16716374a62852c4e77588ecdf2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0036572 http://rdf.disgenet.org/resource/gda/DGN173ab16716374a62852c4e77588ecdf2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#provenance http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#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/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18179895 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/dc/terms/created 2017-10-17T13:18:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1275492.RALS5RrVurUVRNB6K0aJu-LwWWcq1o1LTyEZnR5tKXpWE http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0