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  • 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.
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