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  • Molecular assay reagents intended to identify deletions or duplications of the EYA transcriptional coactivator and phosphatase 1 (EYA1) gene, located at chromosome 8q13.3, which encodes the protein eyes absent homolog 1. Genetic variants at this locus have been associated with branchiootic syndrome, otofaciocervical syndrome, and Melnick-Fraser syndrome.
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