Article

Long-read sequencing unravels the complexity of structural variants in<i>PRKN</i>in two individuals with early-onset Parkinson’s disease

2024-05-03

Abstract excerpt

<h4>Background</h4> PRKN biallelic pathogenic variants are the most common cause of autosomal recessive early-onset Parkinson’s disease (PD). However, the variants responsible for suspected PRKN- PD individuals are not always identified with standard genetic testing. <h4>Objectives</h4> Identify the genetic cause in two siblings with a PRKN -PD phenotype using long-read sequencing (LRS). <h4>Methods</h4> The genet...

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Literature Corpus work: 0ae584d0-97db-5359-90e8-e802d2d5c060
DOI: 10.1101/2024.05.02.24306523

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