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  • Molecular assay reagents intended to identify deletions or duplications of the centrosomal protein 290kDa (CEP290) gene, located at chromosome 12q21.32, which encodes the protein centrosomal protein of 290 kDa. Genetic variants at this locus have been associated with Meckel syndrome type 4, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Joubert syndrome 5, and Leber congenital amaurosis 10.
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