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. 2023 Jan 19;29(1):180–189. doi: 10.1038/s41591-022-02142-1

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Fig. 2 — Distribution of probands and percentage (candidate) diagnoses per major affected organ system based on ACMG classification. LP, likely pathogenic; P, pathogenic; VUS, variant of uncertain significance; GUS, gene of uncertain significance (that is, novel gene); filled color, LP/P variant; hashed color, candidate variant; no color, no variant. Icons adapted from BioRender.com.