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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 21944047 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.