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Comparison of base pair coverage across the whole SH3TC2 gene and flanking regions of the three different mutations identified in the proband. Exome sequencing (ES) provides saturation of base calling reads at >100x. (a) Coverage across the whole SH3TC2 gene. (b) Coverage across the p.M1? mutation. (c) Coverage across the p.Y169H mutation. (d) Coverage across the p.R954X mutation.
