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  • Molecular assay reagents intended to identify deletions or duplications of the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone (BCS1L) gene, located at chromosome 2q33, which encodes the mitochondrial chaperone BCS1. Genetic variants at this locus have been associated with GRACILE syndrome, mitochondrial complex III deficiency, pili torti-deafness syndrome, and Leigh syndrome.
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