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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 10232403 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.