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cge12348-sup-0001-FigureS1.tifTIFF image130KFig. S1. Schematic representation of the EP300 gene with all sequence alterations identified to date. Point mutations are indicated above the gene and intragenic deletions below. The most frequent mutations are insertions/deletions [11], followed by stop mutations [7] and intragenic deletions [5]. Only two splicing mutations and one missense mutation have been identified. Mutations identified in this study are indicated with a star.
cge12348-sup-0002-TableS1.docWord document49KTable S1. All reported EP300 mutations in Rubinstein-Taybi patients. Point mutations (A) and exonic deletions (B)

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