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[For example, mutations in the ABCR gene, (recently identified in cones as well) which codes for retinal rod-specific ABCR protein is responsible for Stargardt macular dystrophy/fundus flavimaculatus, an autosomal recessive macular dystrophy with juvenile onset, which accounts for 7% of human retinal degenerative diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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Gene-disease associations inferred from text-mining the literature.
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