The MEF2C transcription factor has been associated with platelet count and volume in Genome-wide Association Studies
MEF2C deficient mice have defects in platelet production
High MEF2C levels have been associated with worse outcomes in pediatric Acute Myeloid Leukemia
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AGO3, MOV10, RBBP5, HDAC1, and WASF2, genes annotated as regulating megakaryopoiesis, have been identified as MEF2C targets.
rs200234178 and rs34845073, two single nucleotide polymorphisms linked to a noncoding GWAS-identified MEF2C variant, alter transcriptional regulation.
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