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Paper Details

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Am J Med Genet A
136
2011
ALR, Kabuki syndrome, MLL2, MLL2 (ALR), MLL2 mutation, MLL2 mutations, Trithorax-group histone methyltransferase, autosomal dominant disorder, cardiac anomalies, haploinsufficiency, intellectual disability, multiple malformation disorder, renal anomalies, skeletal abnormalities

Datasets

Release 1.2