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

Abstract 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 me...

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Библиографические подробности

Главные авторы:	Sinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, Claudia Schulte, Elena Buena-Atienza, Caspar Gross, Ann-Kathrin Hauser, Dheeraj Reddy Bobbili, Nicolas Casadei, Patrick May, Rejko Krüger, on behalf of the NCER-PD Consortium
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Nature Portfolio 2023-11-01
Серии:	npj Parkinson's Disease
Online-ссылка:	https://doi.org/10.1038/s41531-023-00595-w
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