Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1115050.RAGmd_an-OleQH4VLJf-3byEVgkrGZMcl6wmYSdERvgZE#assertion> ?p ?o ?g. }
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- assertion description "[This is the first example of autosomal dominant optic atrophy and hearing loss associated with a WFS1 mutation, supporting the notion that mutations in WFS1 as well as in OPA1 may lead to ADOA combined with impaired hearing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16648378 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.