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- Bf94b758ec3424cd8464b3d2c183f3b6d NCIT_P378 "NCI" @default.
- Bf94b758ec3424cd8464b3d2c183f3b6d type Axiom @default.
- Bf94b758ec3424cd8464b3d2c183f3b6d annotatedProperty IAO_0000115 @default.
- Bf94b758ec3424cd8464b3d2c183f3b6d annotatedSource NCIT_C105878 @default.
- Bf94b758ec3424cd8464b3d2c183f3b6d annotatedTarget "Human CLCN7 wild-type allele is located in the vicinity of 16p13 and is approximately 31 kb in length. This allele, which encodes H(+)/Cl(-) exchange transporter 7 protein, is involved in chloride ion transport. Mutation of the gene is associated with both osteopetrosis autosomal dominant type 2 and osteopetrosis autosomal recessive type 4." @default.