Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I213L
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PSEN1

NM_000021.4:p.I213L

Associated Papers

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

An internal docking site stabilizes substrate binding to γ-secretase: Analysis by molecular dynamics simulations.

Chen SY et al.

Biophysical Journal, 2022

Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

Tominaga A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

An atomic structure of human γ-secretase.

Bai XC et al.

Nature, 2015

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Ringman JM et al.

Current Neurology and Neuroscience Reports, 2014

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.

Zekanowski C et al.

Experimental Neurology, 2003

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

Rogaeva EA et al.

Neurology, 2001

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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."