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Figure 2. Distribution of rare deleterious variants in FBN1. Schematic representation of FBN1 protein domains and the identified variant sites in patients. Frameshift insertion variants are shown in purple, and missense variants are shown in green. Domains include TB (TB domain), cEGF (Complement Clr-like EGF-like domain), vWFA (von Willebrand factor type A domain), and EGF_CA (Calcium-binding EGF domain). The X-axis represents the length of the FBN1 protein, and the Y-axis represents the number of individuals carrying specific variants.