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. 2020 Sep 30;11(10):1158. doi: 10.3390/genes11101158

Figure 2.

Figure 2

Frequency of gene mutation detected after the analysis of 21 genes. (A) A total of 14% of pathogenic and likely pathogenic variants were identified, with a 15% of variants of unknown significance (VUS) and in approximately 65% of individuals no candidate gene variants were identified. After quality check, 6% of the analyzed samples were discarded due to low quality. (B) The gene with the highest pathogenic variants detected was BMPR2, followed by EIF2AK4, because many patients with PVOD were also included in the analysis.