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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 7508181 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Recent studies in our laboratory established genetic linkage to the type II keratin gene locus on chromosome 12q in one family with EH and identified a single amino acid mutation in keratin 1 that is responsible for the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.