Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_assertion> ?p ?o ?g. }
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- NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_assertion type Assertion NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_head.
- NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_assertion description "[Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_provenance.
- NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_assertion evidence source_evidence_literature NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_provenance.
- NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_assertion SIO_000772 20597900 NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_provenance.
- NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_assertion wasDerivedFrom befree-2016 NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_provenance.
- NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_assertion wasGeneratedBy ECO_0000203 NP823256.RA_12ZgDfxWtuhC0OKMAOtifsmfAKcqrgm5LWX9_EnFYQ130_provenance.