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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2

Alzheimer’s disease (AD) is a neurodegenerative disease that is clinically characterized by progressive cognitive decline. More than 200 pathogenic mutations have been identified in amyloid-β precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2). Additionally, common and rare varian...

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Detalles Bibliográficos
Autores principales:	Hsu, Simon, Pimenova, Anna A., Hayes, Kimberly, Villa, Juan A., Rosene, Matthew J., Jere, Madhavi, Goate, Alison M., Karch, Celeste M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236786/ https://www.ncbi.nlm.nih.gov/pubmed/32087291 http://dx.doi.org/10.1016/j.nbd.2020.104817

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