Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_assertion type Assertion NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_head.
- NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_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." NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_provenance.
- NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_assertion evidence source_evidence_curated NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_provenance.
- NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_assertion SIO_000772 16773128 NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_provenance.
- NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_assertion wasDerivedFrom uniprot-2016 NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_provenance.
- NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_assertion wasGeneratedBy ECO_0000218 NP4559.RA49yrW2D59Qy3J-i9-JXaVpy_uLW-gYFuKyqG_tW2DT0130_provenance.