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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Bibliografiske detaljer
Udgivet i:Neurobiol Dis
Main Authors: Hsu, Simon, Pimenova, Anna A., Hayes, Kimberly, Villa, Juan A., Rosene, Matthew J., Jere, Madhavi, Goate, Alison M., Karch, Celeste M.
Format: Artigo
Sprog:Inglês
Udgivet: 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7236786/
https://ncbi.nlm.nih.gov/pubmed/32087291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2020.104817
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