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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19339306 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.