Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R220G
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PSEN1

NM_000021.4:p.R220G

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

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

Carmona-Iragui M et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017

White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease.

Sánchez-Valle R et al.

Journal of Alzheimer's Disease : Jad, 2016

Evolving brain structural changes in PSEN1 mutation carriers.

Sala-Llonch R et al.

Neurobiology of Aging, 2015

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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."