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Assumption of prevalence of sitosterolemia
Left Panel: Among ∼60,000 individuals, 268 individuals have LOF mutation(s) in ABCG5 gene or ABCG8 gene.
Right panel: According to the frequency of LOF mutation(s) in ABCG5/8 genes, the frequency of sitosterolemia could be estimated around at least 1 in 200,000.
