http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_head http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_assertion http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_assertion http://identifiers.org/ncbigene/57167 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/C0265354 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#DGNc32f3c038bd090e8df765480c12543d9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57167 http://rdf.disgenet.org/gene-disease-association.ttl#DGNc32f3c038bd090e8df765480c12543d9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265354 http://rdf.disgenet.org/gene-disease-association.ttl#DGNc32f3c038bd090e8df765480c12543d9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_assertion http://purl.org/dc/terms/description [Since two of the four cases presented with choanal atresia, large deletions including SALL4 should be considered in the differential diagnosis of children with suspected CHARGE syndrome but without detectable CHD7 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_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#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17623483 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_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#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_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#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/dc/terms/created 2014-10-02T12:37:48+02:00 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP578179.RA8EJlfc8E-e6pxyb8GtwYoeCbnSfffYvxDTvL3yBzzv4 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