Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_assertion> ?p ?o ?g. }
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- NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_assertion type Assertion NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_head.
- NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_assertion wasGeneratedBy ECO_0000203 NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_provenance.
- NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_assertion wasDerivedFrom befree-20150227 NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_provenance.
- NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_assertion SIO_000772 7682883 NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_provenance.
- NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_assertion evidence source_evidence_literature NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_provenance.
- NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_assertion description "[A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP529127.RASbUMZ-TUH7Br5TJ1yFdGwIJR_noBZGShV2zyheaf7gE130_provenance.