Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_assertion> ?p ?o ?g. }
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- NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_assertion type Assertion NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_head.
- NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_assertion description "[Mutations in the WFS1 gene, at 4p16.3, are associated with either optic atrophy (OA) as part of the autosomal recessive Wolfram syndrome or with autosomal dominant progressive low frequency sensorineural hearing loss (LFSNHL) without any ophthalmological abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_provenance.
- NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_assertion evidence source_evidence_literature NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_provenance.
- NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_assertion SIO_000772 16648378 NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_provenance.
- NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_assertion wasDerivedFrom befree-2016 NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_provenance.
- NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_assertion wasGeneratedBy ECO_0000203 NP547523.RAjaa15bbC9DoKY6esfAhbBM3bQkLTD-cBCfBnLPXF1xY130_provenance.