Aug 2026
GCH1 genetic variation as a prognostic factor in Parkinson disease across populations
J. Shin, M. T. Periñán, J. W. Jang et al.
· medRxiv · 0 citations
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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.