Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A431T
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PSEN1

NM_000021.4:p.A431T

Associated Papers

Alzheimer-mutant γ-secretase complexes stall amyloid β-peptide production.

Arafi P et al.

Elife, 2025

39932776 (PubMed )
Supplement: elife-102274-fig4-figsupp1-data1.xlsx › Figure_S5C

Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.

Villegas-Llerena C et al.

Frontiers in Neuroscience, 2025

Alzheimer-mutant γ-secretase complexes stall amyloid β-peptide production.

Arafi P et al.

Biorxiv : the Preprint Server for Biology, 2024

39257787 (PubMed )
Supplement: NIHPP2024.08.30.610520v2-supplement-1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."