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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 11973334 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[We investigated a large EBS kindred who exhibited a markedly heterogeneous clinical presentation and detected two distinct keratin 5 mutations in the proband, the most severely affected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.