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ABCA4 molecular structure (Liu et al., 2021a) with the five most mutations from each cohort. There are 3–4 notable hotspots: ECD1, NBD1, pre-TMD2, and NBD2. ECD, extracellular domain; NBD, nuclear binding domain; TMD, transmembrane domain. Blue circle- German cohort, yellow star- Chinese cohort, green triangle- Danish cohort, pink circle- Oxford cohort. Created with BioRender.com.
