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Molecular assay reagents intended to identify gene variants 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 various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple megalencephalic leukoencephalopathy with subcortical cysts-associated loci simultaneously.
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