Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L250F
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PSEN1

NM_000021.4:p.L250F

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

Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study.

Cabrera LY et al.

Sage Open Medicine, 2015

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.

Larner AJ

Journal of Alzheimer's Disease : Jad, 2013

Genetic counseling for early-onset familial Alzheimer disease in large Aboriginal kindred from a remote community in British Columbia: unique challenges and possible solutions.

Butler R et al.

Journal of Genetic Counseling, 2011

A novel PS1 gene mutation in a large Aboriginal kindred.

Butler R et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2010

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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."