Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A431V
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PSEN1

NM_000021.4:p.A431V

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

Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.

Villegas-Llerena C et al.

Frontiers in Neuroscience, 2025

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

Kalaria RN et al.

The American Journal of Pathology, 2021

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Ibanez L et al.

Frontiers in Neuroscience, 2018

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

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's disease.

Matsushita S et al.

Biological Psychiatry, 2002

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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."