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Correlations of 276 missense variants of <i>PSEN1, PSEN2</i> , and <i>APP</i> on the production of Aβ peptides against variant effect predictors and biophysical structures

2026-02-11

Abstract excerpt

<h4>INTRODUCTION</h4> Early-onset Alzheimer’s disease (EOAD) is mostly caused by mutations in Presenilin-1,2 ( PSEN1, PSEN2) , and amyloid precursor protein ( APP) genes. Both genetic and experimental evidence has supported the PSEN-APP amyloid hypothesis as the leading pathogenesis of AD. Thus far, 276 missense variants from PSEN1,2 , and APP have been identified. Herein, we report the development of algorit...

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Literature Corpus work
d9bea6c4-d743-5194-8ce8-26798ecc9678
DOI
10.64898/2026.02.10.705105
Open publication

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Correlations of 276 missense variants of <i>PSEN1, PSEN2</i> , and <i>APP</i> on the production of Aβ peptides against variant effect predictors and biophysical structuresDOI 10.64898/2026.02.10.705105
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