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- B2e448a966774eaf2146ff88dc8ab9a36 NCIT_P378 "NCI" @default.
- B2e448a966774eaf2146ff88dc8ab9a36 type Axiom @default.
- B2e448a966774eaf2146ff88dc8ab9a36 annotatedProperty IAO_0000115 @default.
- B2e448a966774eaf2146ff88dc8ab9a36 annotatedSource NCIT_C185842 @default.
- B2e448a966774eaf2146ff88dc8ab9a36 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.