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Haploinsufficiency of ITSN1 is associated with Parkinson's disease
2024-07-27
neurology
Title + abstract only
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BackgroundDespite its significant heritability, the genetic underpinnings of Parkinson disease (PD) remain incompletely understood, particularly the role of rare variants. Advances in population-scale sequencing now provide an unprecedented opportunity to uncover additional large-effect rare genetic risk factors and expand our understanding of disease mechanisms. MethodsWe leveraged whole-genome sequence data with linked electronic health records from 490,560 UK Biobank participants, identifyin...
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