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Christine Klein

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Open access Jun 2026

Large-scale functional annotation establishes a reference framework for human LRRK2 variants

Functional effect sizes correlated with pathway activation in patient-derived immune cells, altogether providing a framework for ACMG-based variant interpretation in which kinase activation can support PS3 functional evidence for reclassification of variants.

Anthea Cheung, Neringa Pratuseviciute, Kirsten Black et al. · 0 citations