http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_head http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_assertion http://identifiers.org/ncbigene/9378 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/C1970431 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#DGN4e0435c97614e982c0970ef95f1747de http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9378 http://rdf.disgenet.org/gene-disease-association.ttl#DGN4e0435c97614e982c0970ef95f1747de http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1970431 http://rdf.disgenet.org/gene-disease-association.ttl#DGN4e0435c97614e982c0970ef95f1747de http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_assertion http://purl.org/dc/terms/description [We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_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#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19896112 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_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#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_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#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/dc/terms/created 2014-10-02T12:40:46+02:00 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP860324.RAuhnvyOX6V7c4D41GLlPbMFKsSl4vDVa0_hTXxLZIuZI 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