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Molecular assay reagents intended to identify mutations in genes associated with megalencephalic leukoencephalopathy with subcortical cysts, a leukodystrophy associated with early-onset megacephaly and delayed-onset neurologic deterioration. Genetic variants at multiple loci have been associated with megalencephalic leukoencephalopathy with subcortical cysts. These reagents are intended to detect mutations in multiple megalencephalic leukoencephalopathy with subcortical cysts-associated loci simultaneously.
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