http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_head http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_assertion http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_provenance http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_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/C0022658 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/DGN7ba656bfd787015b4a095a49f4b6ddcf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2138 http://rdf.disgenet.org/resource/gda/DGN7ba656bfd787015b4a095a49f4b6ddcf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022658 http://rdf.disgenet.org/resource/gda/DGN7ba656bfd787015b4a095a49f4b6ddcf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_provenance http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_assertion http://purl.org/dc/terms/description [We describe the detailed clinical features and medical highlights of the family members, and based on their clinical histories we propose that genetic testing for EYA1 mutations would contribute to the diagnosis of BOR syndrome, facilitate genetic counseling for recurrence, give precautions regarding possible renal disorders later in life, and impact the consideration of surgical intervention for middle ear anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17364338 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/dc/terms/created 2016-05-13T12:46:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0