2024
DOI: 10.1101/2024.05.02.24306523
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Long-read sequencing unravels the complexity of structural variants inPRKNin two individuals with early-onset Parkinson’s disease

Guillaume Cogan,
Kensuke Daida,
Kimberley J. Billingsley
et al.

Abstract: Background: 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. Objectives: Identify the genetic cause in two siblings with a PRKN-PD phenotype using long-read sequencing (LRS). Methods: The genetic investigation involved standard testing using successively multiple ligation probe amplification (MLPA), Sanger sequencin… Show more

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