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- B0a2d1ff3e6a6c2c57ee897ff3a81b731 NCIT_P378 "NCI" @default.
- B0a2d1ff3e6a6c2c57ee897ff3a81b731 type Axiom @default.
- B0a2d1ff3e6a6c2c57ee897ff3a81b731 annotatedProperty IAO_0000115 @default.
- B0a2d1ff3e6a6c2c57ee897ff3a81b731 annotatedSource NCIT_C104150 @default.
- B0a2d1ff3e6a6c2c57ee897ff3a81b731 annotatedTarget "Human CYP27A1 wild-type allele is located within 2q35 and is approximately 34 kb in length. This allele, which encodes sterol 26-hydroxylase, mitochondrial protein, plays a role in bile synthesis and cholesterol homeostasis. Mutations in CYP27A1 are associated with cerebrotendinous xanthomatosis." @default.