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Sites of mutations in the MEF2C protein. Red and green indicate reported mutations and novel mutations detected in this study, respectively. C, C-terminus; N, N-terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; HJURP-C, Holliday junction recognition protein C-terminal; NLS, nuclear location signal; TAD, transcriptional activation domain.
