Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R220Q
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PSEN1

NM_000021.4:p.R220Q

Associated Papers

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

Khani M et al.

Nature Communications, 2025

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

Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Wightman DP et al.

Scientific Reports, 2023

36750708 (PubMed )
Supplement: 41598_2023_29108_MOESM1_ESM.xlsx › Supp_T11

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018

30114415 (PubMed )
Supplement: EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx › Table_S6_APPPS1PS2_NS_1_
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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."