Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion> ?p ?o ?g. }
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- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion type Assertion NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_head.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_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." NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion evidence source_evidence_literature NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion SIO_000772 16648378 NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion wasDerivedFrom befree-20150227 NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion wasGeneratedBy ECO_0000203 NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.