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  • Molecular assay reagents intended to identify gene variants associated with dyskeratosis congenita, a condition involving defective telomeres that leads to nail dystrophy, changes in skin color, and oral leukoplakia (i.e., white patches on the oral mucosa). Genetic variants at multiple loci have been associated with dyskeratosis congenita. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple dyskeratosis congenita-associated loci simultaneously.
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