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  • Molecular assay reagents intended to identify deletions or duplications of the actin, alpha 2, smooth muscle, aorta (ACTA2) gene, located at chromosome 10q23.3, which encodes the protein aortic smooth muscle actin. Genetic variants at this locus have been associated with moyamoya disease 5, multisystemic smooth muscle dysfunction syndrome, and familial thoracic aortic aneurysm 6.
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