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2010 | 1 |
2011 | 1 |
2024 | 0 |
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Am J Med Genet A. 2011 Jul;155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10.
Am J Med Genet A. 2011.
PMID: 21671394
Free PMC article.
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J.
Ng SB, et al.
Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.
Nat Genet. 2010.
PMID: 20711175
Free PMC article.
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