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  • Molecular assay reagents intended to identify deletions or duplications of the collagen type VI alpha 2 (COL6A2) gene, located at chromosome 21q22.3, which encodes collagen VI alpha-2 chain. Genetic variants at this locus have been associated with autosomal recessive myosclerosis, Bethlem myopathy, and Ullrich congenital muscular dystrophy.
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