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Rare variants

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ANKK1, ANKRD50, GRK5, PACSIN1, and VPS8 are novel candidate genes associated with late-onset Parkinson’s disease

Federica Carrillo, Nicole Piera Palomba, Sara Pietracupa et al. · FENS Forum 2024

…reported the identification of rare new gene variants in PD patients that support polygenic contribution to the disease. Here we report the identification of novel PD genes and a novel protocol for predictive analysis of PD risk.The study includes the whole exome data of 22 PD families, 804 unrelated PD and 282 healthy subjects.Family-based approach identified rare and disrupting variants, in 44 candidate genes, co-inherited by affected rel

ePoster · Neuroscience