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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 24560797 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations in BEST1 cause five distinct retinal degenerative diseases, including adult vitelliform macular dystrophy (AVMD), autosomal recessive bestrophinopathy (ARB), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and retinitis pigmentosa (RP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.