Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_assertion> ?p ?o ?g. }
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- NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_assertion type Assertion NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_head.
- NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_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." NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_provenance.
- NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_assertion evidence source_evidence_literature NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_provenance.
- NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_assertion SIO_000772 16648378 NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_provenance.
- NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_assertion wasDerivedFrom befree-2016 NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_provenance.
- NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_assertion wasGeneratedBy ECO_0000203 NP547530.RAKgv2nYDkPstWkvRZfmUHpQQOXvq8Mb5-6UEQin9TU78130_provenance.