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Allelic diversity of ABCA4. This figure shows the number of different disease-causing ABCA4 variants (y-axis) that occur at each frequency (x-axis) in a population of 404 patients with clinical features of ABCA4 disease ascertained by one of the authors. Variants seen eight or more times in the cohort are specifically labeled. Of the 258 different plausible disease-causing variants seen in this cohort, 168 (65%) were observed only once.
