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- Bfe2e0a2b127491421a724e6eff58e725 NCIT_P378 "NCI" @default.
- Bfe2e0a2b127491421a724e6eff58e725 type Axiom @default.
- Bfe2e0a2b127491421a724e6eff58e725 annotatedProperty IAO_0000115 @default.
- Bfe2e0a2b127491421a724e6eff58e725 annotatedSource NCIT_C185842 @default.
- Bfe2e0a2b127491421a724e6eff58e725 annotatedTarget "Human CPA6 wild-type allele is located in the vicinity of 8q13.2 and is approximately 325 kb in length. This allele, which encodes carboxypeptidase A6 protein, is involved in proteolysis of neuropeptides and peptide hormones. Mutation of the gene is associated with familial termporal lobe epilepsy 5 and familial febrile seizures 11. A translocation t(6;8)(q26;q13) involving this gene may transcribe the active form of the enzyme and may be associated with Duane retraction syndrome." @default.