Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M457V
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PSEN1

NM_000021.4:p.M457V

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 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

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

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

Jiao B et al.

Npj Genomic Medicine, 2021

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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."