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  • Human NHP2 wild-type allele is located in the vicinity of 5q35.3 and is approximately 5 kb in length. This allele, which encodes H/ACA ribonucleoprotein complex subunit 2 protein, plays a role in both ribosome biogenesis and telomere maintenance. Mutation of the gene is associated with autosomal recessive dyskeratosis congenita type 2.
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