http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_head http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_assertion http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_assertion http://identifiers.org/ncbigene/1391 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/C0012236 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#DGN188f95ae574518cb4223015a8dcbdf91 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1391 http://rdf.disgenet.org/gene-disease-association.ttl#DGN188f95ae574518cb4223015a8dcbdf91 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0012236 http://rdf.disgenet.org/gene-disease-association.ttl#DGN188f95ae574518cb4223015a8dcbdf91 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_assertion http://purl.org/dc/terms/description [In view of the broad clinical spectrum and the likely genetic heterogeneity of both disorders, these cases are consistent with the extended phenotype of either DGS without 22q11.2 deletion or CHARGE association, especially as several features of CHARGE association have been reported in rare patients with 22q11.2 deletion association phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_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#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9429139 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_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#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_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#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/dc/terms/created 2014-10-02T12:38:40+02:00 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4 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