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  • Human DCHS1 wild-type allele is located in the vicinity of 11p15.4 and is approximately 43 kb in length. This allele, which encodes protocadherin-16 protein, is involved in calcium-mediated cell-cell adhesion and neuroprogenitor cell proliferation and differentiation. Mutation of the gene is associated with mitral valve prolapse 2 and Van Maldergem syndrome 1.
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