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  • Human RMRP wild-type allele is located in the vicinity of 9p13.3 and is approximately 1 kb in length. This allele, which encodes RNA component of mitochondrial RNA processing endoribonuclease, is involved in mitochondrial RNA cleavage. Mutations in the gene are associated with cartilage-hair hypoplasia (CHH), anauxetic dysplasia 1 and metaphyseal dysplasia without hypotrichosis.
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