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  • Molecular assay reagents intended to identify deletions or duplications of the collagen type I alpha 1 (COL1A1) gene, located at chromosome 17q21.33, which encodes type I collagen alpha-1 chain. Genetic variants at this locus have been associated with Ehlers-Danlos syndrome, infantile cortical hyperostosis, osteogenesis imperfecta, and osteoporosis.
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