Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F386L
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PSEN1

NM_000021.4:p.F386L

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

Proteostasis and lysosomal repair deficits in transdifferentiated neurons of Alzheimer's disease.

Chou CC et al.

Nature Cell Biology, 2025

40140603 (PubMed )
Supplement: 41556_2025_1623_MOESM3_ESM.xlsx › S1

Proteostasis and lysosomal repair deficits in transdifferentiated neurons of Alzheimer's disease.

Chou CC et al.

Biorxiv : the Preprint Server for Biology, 2025

37034684 (PubMed )
Supplement: media-13.xlsx › S1

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

Ringman JM et al.

Brain Communications, 2023

Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease.

Eger SJ et al.

Neurology. Genetics, 2022

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

34389718 (PubMed )
Supplement: 41525_2021_235_MOESM1_ESM.docx

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 (p.F386I) in a Chinese family with early-onset Alzheimer's disease.

Shea YF et al.

Neurobiology of Aging, 2017

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing.

Yagi R et al.

Neurobiology of Aging, 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."