Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP631640.RA7Dy1ahY6ieelCz7MQXHXV8EAP4-5bMnuVgOu3x_wzlo#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 7682883 provenance.
- assertion evidence source_evidence_curated provenance.
- 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." provenance.