Kim et al., 2016 - De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. American journal of human genetics   99(3):711-9 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
syndromic intellectual disability
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