Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP797465.RAhX7RYa3rUGLb_gQ_bxb7CFxUZtdSrgK2VIMxJQJzZtU#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 18285825 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.