Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L219F
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PSEN1

NM_000021.4:p.L219F

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

Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An in-silico study.

Mintoff D et al.

Frontiers in Genetics, 2022

Genetic Markers of Alzheimer's Disease.

Nikolac Perkovic M et al.

Advances in Experimental Medicine and Biology, 2019

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.

Bruni AC et al.

Neurology, 2010

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.

Forloni G et al.

Neurobiology of Aging, 0

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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."