Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion> ?p ?o ?g. }
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- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion type Assertion NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_head.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_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." NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion evidence source_evidence_literature NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion SIO_000772 16648378 NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion wasDerivedFrom befree-20140225 NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion wasGeneratedBy ECO_0000203 NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.