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Molecular assay reagents intended to identify deletions and duplications in the majority of genes known to be associated with spinal muscular atrophy, a neuromuscular disorder caused by loss of motor neurons in the brainstem and spinal cord leading to muscle weakness and atrophy. Genetic variants at multiple loci have been associated with spinal muscular atrophy. These reagents are intended to detect deletions and duplications in the majority of spinal muscular atrophy-associated loci simultaneously.
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