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  • Molecular assay reagents intended to identify gene variants associated with holoprosencephaly, a brain malformation characterized by incomplete forebrain division that may also present with craniofacial abnormalities (e.g., closely spaced eyes, small head size, cleft lip/palate). Genetic variants at multiple loci have been associated with holoprosencephaly. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple holoprosencephaly-associated loci simultaneously.
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