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  • Molecular assay reagents intended to identify deletions or duplications of the branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA) gene, located at chromosome 19q13.1-q13.2, which encodes the alpha subunit of mitochondrial 2-oxoisovalerate dehydrogenase. Genetic variants at this locus have been associated with maple syrup urine disease.
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