http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_head http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_assertion http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_provenance http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_assertion http://identifiers.org/ncbigene/7531 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/C0266449 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/DGN01ac09d2979e93987a0787416f248fa0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7531 http://rdf.disgenet.org/resource/gda/DGN01ac09d2979e93987a0787416f248fa0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266449 http://rdf.disgenet.org/resource/gda/DGN01ac09d2979e93987a0787416f248fa0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_provenance http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_assertion http://purl.org/dc/terms/description [It is shown that YWHAE is the only brain expressed gene in the deleted region and that the other genes in the interval are unlikely to contribute to the brain malformation phenotype of this patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19635726 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/dc/terms/created 2015-08-25T14:45:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP781505.RABixG-QEgAWJmKM_a2DzF3c726UhfC6GEFD2cofm9wBw http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0