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  • Molecular assay reagents intended to identify genetic variants associated with Refsum disease, a genetic disease in the Zellweger spectrum characterized by vision loss, loss of sense of smell, and other symptoms. Genetic variants at multiple loci have been associated with Refsum disease. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple Refsum disease-associated loci simultaneously.
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