GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters

BACKGROUND: GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood. Additionally, the frequency of GBA1 variants varies widely across populations. OBJECTIVES: To evaluate Oxford Nanopor...

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Detalles Bibliográficos
Autores principales: Gabbert, Carolin, Schaake, Susen, Lüth, Theresa, Much, Christoph, Klein, Christine, Aasly, Jan O., Farrer, Matthew J., Trinh, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262508/
https://www.ncbi.nlm.nih.gov/pubmed/37312046
http://dx.doi.org/10.1186/s12864-023-09417-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262508/
https://www.ncbi.nlm.nih.gov/pubmed/37312046
http://dx.doi.org/10.1186/s12864-023-09417-y

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