Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_assertion type Assertion NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_head.
- NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_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." NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_provenance.
- NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_assertion evidence source_evidence_literature NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_provenance.
- NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_assertion SIO_000772 16648378 NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_provenance.
- NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_assertion wasDerivedFrom befree-2016 NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_provenance.
- NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_assertion wasGeneratedBy ECO_0000203 NP547529.RAZIQC96gOFOD0uMZHbzte3UI3AfqKzGCI6E9vGQ19U-8130_provenance.