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- B7f799e76fc2b28396c13d1e1cf1d4bc4 NCIT_P378 "NCI" @default.
- B7f799e76fc2b28396c13d1e1cf1d4bc4 type Axiom @default.
- B7f799e76fc2b28396c13d1e1cf1d4bc4 annotatedProperty IAO_0000115 @default.
- B7f799e76fc2b28396c13d1e1cf1d4bc4 annotatedSource NCIT_C114320 @default.
- B7f799e76fc2b28396c13d1e1cf1d4bc4 annotatedTarget "Human AIRE wild-type allele is located in the vicinity of 21q22.3 and is approximately 12 kb in length. This allele, which encodes autoimmune regulator protein, plays a role in both transcriptional activation and the negative regulation of autoimmune responses. Mutation of the gene is associated with autoimmune polyendocrine syndrome 1." @default.