Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1114841.RAHcZrdu_2jG9Ow1dk7ts_ZxhNyOaoa-gSfb70cQA2y_E#assertion> ?p ?o ?g. }
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- assertion description "[Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 16648378 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.