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

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 rem...

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Detalles Bibliográficos
Autores principales: Pachchek, Sinthuja, Landoulsi, Zied, Pavelka, Lukas, Schulte, Claudia, Buena-Atienza, Elena, Gross, Caspar, Hauser, Ann-Kathrin, Reddy Bobbili, Dheeraj, Casadei, Nicolas, May, Patrick, Krüger, Rejko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667262/
https://www.ncbi.nlm.nih.gov/pubmed/37996455
http://dx.doi.org/10.1038/s41531-023-00595-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667262/
https://www.ncbi.nlm.nih.gov/pubmed/37996455
http://dx.doi.org/10.1038/s41531-023-00595-w

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