Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I167del1
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PSEN1

NM_000021.4:p.I167del1

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

Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Qin Q et al.

Molecular Genetics & Genomic Medicine, 2020

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

You C et al.

Frontiers in Neurology, 2020

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

Van Giau V et al.

Bmc Neurology, 2019

Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease.

Gao Y et al.

Neurobiology of Aging, 2019

Representing Diversity in the Dish: Using Patient-Derived in Vitro Models to Recreate the Heterogeneity of Neurological Disease.

Ghaffari LT et al.

Frontiers in Neuroscience, 2018

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

An SS et al.

Clinical Interventions in Aging, 2016

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."