Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.V150M
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PSEN2

NM_000447.3:p.V150M

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

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

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.

Koriath CAM et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.

Wang D et al.

Journal of Alzheimer's Disease : Jad, 2025

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).

Wang D et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Biorxiv : the Preprint Server for Biology, 2024

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Koriath C et al.

Molecular Psychiatry, 2020

30279455 (PubMed )
Supplement: 41380_2018_224_MOESM1_ESM.docx

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

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

Gao Y et al.

Neurobiology of Aging, 2019

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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."