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- NCIT_C92162 IAO_0000115 "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." @default.
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- NCIT_C92162 hasExactSynonym "C5DELq14.3" @default.
- NCIT_C92162 hasExactSynonym "DEL5q14.3" @default.
- NCIT_C92162 hasExactSynonym "MADS Box Transcription Enhancer Factor 2, Polypeptide C (Myocyte Enhancer Factor 2C) Gene" @default.
- NCIT_C92162 hasExactSynonym "MEF2C wt Allele" @default.
- NCIT_C92162 hasExactSynonym "Myocyte Enhancer Factor 2C wt Allele" @default.
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