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  • Molecular assay reagents intended to identify deletions or duplications of the gap junction protein beta 2 (GJB2) gene, located at chromosome 13q11-q12, which encodes the gap junction beta-2 protein. Genetic variants at this locus have been associated with deafness, hystrix-like ichthyosis with deafness, keratitis-ichthyosis-deafness syndrome, keratoderma palmoplantar deafness, Bart-Pumphrey syndrome, and mutilating keratoderma.
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