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Next Generation Mendelian Genetics: Kabuki Syndrome
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Selected Publications (1)
Variables (28)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. H. Ng, A. Bigham, K. Buckingham, et al. (2010). Nature genetics. Cited 1,413 times.
https://doi.org/10.1038/ng.646
