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  • Molecular assay reagents intended to identify deletions or duplications of the branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB) gene, located at chromosome 6q14.1, which encodes the beta subunit of mitochondrial 2-oxoisovalerate dehydrogenase. Genetic variants at this locus have been associated with maple syrup urine disease.
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