Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I408T
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PSEN1

NM_000021.4:p.I408T

Associated Papers

Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.

Acosta-Uribe J et al.

Npj Dementia, 2026

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 › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.

Acosta-Uribe J et al.

Research Square, 2025

Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.

Acosta-Uribe J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.

Tábuas-Pereira M et al.

Neurogenetics, 2022

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.

Tang N et al.

Journal of Alzheimer's Disease : Jad, 2018

30412504 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180829.docx

Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.

Tedde A et al.

Neuroscience Letters, 2016

Abstracts of the IX Congresso Sindem: Italian Association for the study of Dementia linked to the Italian Neurological Society (SIN), March 13-15, 2014, Florence, Italy.

Bonavita V et al.

Journal of Alzheimer's Disease : Jad, 2014

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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."