Correlations of 276 missense variants of PSEN1, PSEN2, and APP on the production of Aβ peptides against variant effect predictors and biophysical structures
J. J. Song, Serina Yan, Sophia Liu, Adhvaith Sridhar, Kijung Sung, Joshua P. Pillai, Chengbiao Wu
This study correlates 276 missense variants in PSEN1, PSEN2, and APP with Aβ peptide levels and variant effect predictors to assess pathogenicity in early-onset Alzheimer's disease.
bioRxiv · Feb 11, 2026 · PreprintNeuroscience