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  • Human TREX1 wild-type allele is located in the vicinity of 3p21.31 and is approximately 3 kb in length. This allele, which encodes three prime repair exonuclease 1 protein, plays a role in DNA repair. Mutation of the gene is associated with Aicardi-Goutieres syndrome 1, Chilblain lupus, vasculopathy, retinal, with cerebral leukodystrophy, and increased susceptibility to systemic lupus erythematosus.
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