Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F177V
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PSEN1

NM_000021.4:p.F177V

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

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Very Early-Onset Alzheimer's Disease in the Third Decade of Life with de novo PSEN1 Mutations.

Chen KL et al.

Journal of Alzheimer's Disease : Jad, 2022

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 Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer's Disease in a Chinese Family.

Jiang B et al.

Frontiers in Genetics, 2020

Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease.

Gao Y et al.

Neurobiology of Aging, 2019

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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."