Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I168del1
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PSEN1

NM_000021.4:p.I168del1

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 › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

Protein Structure Prediction for Disease-Related Insertions/Deletions in Presenilin 1 Gene.

Avramouli A et al.

Advances in Experimental Medicine and Biology, 2023

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Van Giau V et al.

Bmc Neurology, 2019

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

Ryan NS et al.

The Lancet. Neurology, 2016

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Sassi C et al.

Neurobiology of Aging, 2014

Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.

Jiao B et al.

Neurobiology of Aging, 2014

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 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."