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- assertion wasGeneratedBy ECO_0000203 provenance.
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- assertion SIO_000772 8045710 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[To investigate functional abnormalities in mutations in the peripherin (RDS) gene leading to different clinical types of autosomal dominant retinal disease--macular degeneration and retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.