Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_assertion> ?p ?o ?g. }
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- NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_assertion type Assertion NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_head.
- NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_assertion description "[Mutations in the SLC26A4 gene encoding for pendrin are responsible for both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct, EVA) hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_provenance.
- NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_assertion evidence source_evidence_literature NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_provenance.
- NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_assertion SIO_000772 22116360 NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_provenance.
- NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_assertion wasDerivedFrom befree-2016 NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_provenance.
- NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_assertion wasGeneratedBy ECO_0000203 NP941727.RAYW3P6hgEPmdIUjWSqC5Z8xyNaUpjz1IWZVOCeN6pOdA130_provenance.