Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.K109*
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PSEN1

NM_000021.4:p.K109*

Associated Papers

The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease.

Sanjuan Ruiz I et al.

Research Square, 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

The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.

Sanjuan-Ruiz I et al.

Molecular Neurodegeneration Advances, 2025

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Karch CM et al.

Alzheimer's Research & Therapy, 2018

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Cruchaga C et al.

Nature, 2014

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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."