Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP11118.RAfc34y3HUCkcZKZgycPDmpkuTEiFT5utHqIQWSf3EVcc#assertion> ?p ?o ?g. }
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- assertion description "[A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 16773128 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.