Stevens SJ et al. De novo mutations in the SET nuclear proto-oncogene,encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. Hum Mutat. 2018;39(7):1014-1023. PMID: 29688601.
Richardson R et al. SET de novo frameshift variants associated with developmental delay and intellectual disabilities. Eur J Hum Genet. 2018; 26(9):1306-1311. PMID: 29907757.
Shono K et al., Further delineation of SET-related intellectual disability syndrome. Am J Med Genet A. 2022;188(5):1595-1599. PMID: 35122673