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Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant

23 Feb 2025

Abstract excerpt

LRRK2-related Parkinson's disease (LRRK2-PD) is the most frequent form of monogenic PD worldwide, with important therapeutic opportunities, exemplified by the advancement in LRRK2 kinase inhibition studies/trials. However, many LRRK2 variants, especially those found in underrepresented populations, remain classified as variants of uncertain significance (VUS). Leveraging on Malaysian, Singaporean, and mainland...

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PMID: 39988587
DOI: 10.1038/s41531-025-00884-6

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