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Human HOXA1 wild-type allele is located in the vicinity of 7p15.3 and is approximately 3 kb in length. This allele, which encodes homeobox protein Hox-A1, is involved in the modulation of embryotic segment patterning. Mutation of the gene is associated with Athabaskan brainstem dysgenesis syndrome and Bosley-Salih-Alorainy syndrome.
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