Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.P242fs
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PSEN1

NM_000021.4:p.P242fs

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

Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2023

Brain transcriptomes of zebrafish and mouse Alzheimer's disease knock-in models imply early disrupted energy metabolism.

Barthelson K et al.

Disease Models & Mechanisms, 2022

PRESENILIN 1 Mutations Causing Early-Onset Familial Alzheimer's Disease or Familial Acne Inversa Differ in Their Effects on Genes Facilitating Energy Metabolism and Signal Transduction.

Barthelson K et al.

Journal of Alzheimer's Disease : Jad, 2021

Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1.

Newman M et al.

Human Molecular Genetics, 2020

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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."