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NCI: Human EXT1 wild-type allele is located within 8q24.11-q24.13 and is approximately 312 kb in length. This allele, which encodes exostosin-1 protein, is involved in the chain elongation step of heparin/heparin sulfate biosynthesis. Certain allelic variants of the EXT1 gene cause multiple exostoses type I.
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