Article

Estimated genetics prevalence of early-onset Parkinson’s disease caused by<i>PRKN</i>mutations

2024-01-23

Abstract excerpt

<h4>Background</h4> Estimating the prevalence of rare diseases is challenging due to very limited natural history studies, lack of studies in diverse populations, and frequent under or misdiagnosis. We leveraged human genetics to estimate the genetic prevalence (eGP) of familial Parkinson’s disease (PD) caused by biallelic pathogenic variants in the Parkin ( PRKN ) gene (PRKN-PD). <h4>Methods</h4> We curated the r...

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Literature Corpus work: d862be1b-d2bd-5fc1-a9f7-b363bdd0f11c
DOI: 10.1101/2024.01.22.24301610

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