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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 10733662 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.