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Article

Protein Structure Prediction for Disease-Related Insertions/Deletions in Presenilin 1 Gene.

Advances in experimental medicine and biology - 1 Jan 2023

Avramouli Antigoni, Krokidis Marios G, Exarchos Themis P, Vlamos Panagiotis

Abstract excerpt

More than 450 mutations, some of which have unknown toxicity, have been reported in the presenilin 1 gene, which is the most common cause of Alzheimer's disease (AD) with an early onset. PSEN1 mutations are thought to be responsible for approximately 80% of cases of monogenic AD, which are characterized by complete penetrance and an early age of onset. It is still unknown exactly how mutations in the presenilin 1...

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PMID: 37525031
DOI: 10.1007/978-3-031-31978-5_4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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