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Protein-truncating variants in UQCRC1 are associated with Parkinson’s disease: evidence from half-million people

9 May 2025

Abstract excerpt

Recent studies have suggested a potential but inconsistent link between UQCRC1 and Parkinson’s disease (PD). For the first time, we systematically investigated the association between non-synonymous variants in UQCRC1 and PD risk using data from the UK Biobank with half-million participants, which provide evidence supporting the role of UQCRC1 Protein-truncating variants (PTVs) in PD ( P = 1.20 × 10 −6 , OR =...

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PMID: 40346065
DOI: 10.1038/s41531-025-00987-0

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