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Ng SB, Bigham AW, Buckingham KJ, et al. "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome." Nat. Genet.. 2010;42(9):790-3. Abstract
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Hannibal MC, Buckingham KJ, Ng SB, et al. "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(7):1511-6. Abstract