Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_assertion> ?p ?o ?g. }
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- NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_assertion type Assertion NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_head.
- NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_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." NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_provenance.
- NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_assertion evidence source_evidence_literature NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_provenance.
- NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_assertion SIO_000772 16648378 NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_provenance.
- NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_assertion wasDerivedFrom befree-20140225 NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_provenance.
- NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_assertion wasGeneratedBy ECO_0000203 NP360039.RALHG5m7BbjuuUkR0zv9yraE6UDkT3HHxNlzKIsQKZ9xQ130_provenance.