Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A275S
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PSEN1

NM_000021.4:p.A275S

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 › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2023

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.

Takada LT et al.

Alzheimer's Research & Therapy, 2022

Novel Presenilin-1 Mutation (Ala275Ser) Associated With Clinical Features of Dementia With Lewy Bodies.

Joshi P et al.

Alzheimer Disease and Associated Disorders, 0

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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."