Article

Comprehensive genetic screening of the South African Parkinson’s disease study collection using the NeuroBooster array

2025-12-17

Abstract excerpt

Parkinson’s disease (PD) is a complex neurodegenerative disorder with a substantial genetic influence. To better characterize the genetic landscape of PD in South Africa, we conducted the largest genetic screening to date for pathogenic single nucleotide and copy number variations (CNVs) using genotyping array data from 689 PD probands. We identified 16 unique missense variants, confirming 15 with Sanger sequencin...

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Literature Corpus work: b6ae06ec-bcf2-5996-ba8f-29cfd6ecceda
DOI: 10.64898/2025.12.17.25341881

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