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Type of candidate variants and affected genes identified in this study. (A) Distribution of the identified variants according to the tiers defined by the ACMG criteria (P: pathogenic; LP: likely pathogenic; VUS: variant of uncertain significance; LB: likely benign; B: benign). (B) Number of variants (P: Pathogenic; LP: Like Pathogenic; VUS: variant of uncertain significance) found in different (38/54) genes analyzed by our NGS panel.
