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- B2199e62cdd971356d54a0f51a3a538be NCIT_P378 "NCI" @default.
- B2199e62cdd971356d54a0f51a3a538be type Axiom @default.
- B2199e62cdd971356d54a0f51a3a538be annotatedProperty IAO_0000115 @default.
- B2199e62cdd971356d54a0f51a3a538be annotatedSource NCIT_C51009 @default.
- B2199e62cdd971356d54a0f51a3a538be annotatedTarget "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." @default.