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  • Molecular assay reagents intended to identify deletions or duplications of the aristaless related homeobox (ARX) gene, located at chromosome Xp21.3, which encodes the protein homeobox protein ARX. Genetic variants at this locus have been associated with Genetic variants at this locus have been associated with early infantile epileptic encephalopathy 1, X-linked lissencephaly 2, X-linked ARX-related mental retardation with or without seizures, Partington X-linked mental retardation syndrome, and Proud Levine Carpenter syndrome
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