Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G209A
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PSEN1

NM_000021.4:p.G209A

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

Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.

Poniah P et al.

Genes, 2025

40149496 (PubMed )
Supplement: genes-16-00345-s001.zip › genes-3411048-supplementary.pdf

Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.

Islam S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022

Advances in Genetics and Epigenetic Alterations in Alzheimer's Disease: A Notion for Therapeutic Treatment.

Rabaneda-Bueno R et al.

Genes, 2021

Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.

Shademan B et al.

Neuromolecular Medicine, 2021

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.

Giau VV et al.

Neurobiology of Aging, 2018

Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.

An SS et al.

Bmc Neurology, 2016

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

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

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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."