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  • Human MEF2C wild-type allele is located in the vicinity of 5q14 and is approximately 186 kb in length. This allele, which encodes myocyte-specific enhancer factor 2C protein, is involved in the mediation of cardiac morphogenesis, muscle cell differentiation and vasculogenesis. Mutations and deletions of the gene are associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation.
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