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- Algorithm used for VUS prioritization. PV, pathogenic variant; PPV ...
- Algorithm used for VUS prioritization. PV, pathogenic variant; PPV ...
- NGS outcome. P/LP = pathogenic/likely pathogenic variant; VUS = variant ...
- Flowchart of patient data analysis. LPV likely pathogenic variant, PV ...
- Occurrence of a pathogenic variant, VUS or no pathogenic variant ...
- Occurrence of a pathogenic variant, VUS or no pathogenic variant ...
- Flow chart of active recruitment. PV = pathogenic/likely pathogenic ...
- Flow chart of active recruitment. PV = pathogenic/likely pathogenic ...
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