dgn-np:NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_provenance {
  dgn-np:NP599445.RA7bi0itOW1PcRSLMRQhfLBsY9oDekHF7nFle9fb1ZCLE130_assertion dcterms: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."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:17364338 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}