http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_head http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion http://identifiers.org/ncbigene/2138 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/C0546969 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#DGNb927c158c92b0144952861b99f84373c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2138 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb927c158c92b0144952861b99f84373c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0546969 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb927c158c92b0144952861b99f84373c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion http://purl.org/dc/terms/description [We studied an extended family with AD inheritance of branchial arch anomalies (BAA), hearing loss, and ear pits, whose phenotype differed from that of patients with BOR in that none of the affected members had renal abnormalities or lacrimal duct stenosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_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#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9788564 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_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#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_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#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/dc/terms/created 2014-10-02T12:34:16+02:00 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk 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