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(A). Genetic heterogeneity in various genetic disorders, (B). Genetic discoveries in PAH, (C). Proportion of explained cases by cohort (Gräf et al., 2018—I/HPAH [24]; Zhu et al., 2019—Group 1 PAH [25]; Wang et al., 2019—IPAH [26]). ‘?’ denotes uncertainty around number of genes involved in the pathogenesis of PAH.
