Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F388L
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PSEN1

NM_000021.4:p.F388L

Associated Papers

Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.

Xia Y et al.

Neurology and Therapy, 2025

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

Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Ringman JM et al.

Brain Communications, 2023

Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Qin Q et al.

Molecular Genetics & Genomic Medicine, 2020

A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease.

Zhan Y et al.

Neurobiology of Aging, 2017

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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."