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Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson’s study

23 Nov 2023

Abstract excerpt

Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognized risk factor for Parkinson's disease (PD). Due to the GBAP1 pseudogene, which shares 96% sequence homology with the GBA1 coding region, accurate variant calling by array-based or short-read sequencing methods remains a major challenge in understanding the genetic landscape of GBA1-associated PD. We analyzed 660 patients with...

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PMID: 37996455
DOI: 10.1038/s41531-023-00595-w

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