Fig. 4From: De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopiaWork flow of WES analysis in this study. One variant in EP300 was selected out of 6 candidate variants based on the scores of mathematical predictions of mutational impact on proteins and its pathological impact as well. c.3714_3715del, which results in following amino acid substitution: (p.Leu1239Glyfs*3)Back to article page