Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.V669L
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APP

NM_000484.4:p.V669L

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

Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer's Disease.

Ma L et al.

Neuromolecular Medicine, 2024

E674Q (Shanghai APP mutant), a novel amyloid precursor protein mutation, in familial late-onset Alzheimer's disease.

Zhang Y et al.

Genes & Diseases, 2024

Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.

Abondio P et al.

International Journal of Molecular Sciences, 2022

36555510 (PubMed )
Supplement: ijms-23-15871-s001.zip › ijms-2049902-supplementary.xlsx › S1

Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.

Liu Y et al.

Frontiers in Aging Neuroscience, 2022

Novel amyloid precursor protein mutation, Val669Leu ("Seoul APP"), in a Korean patient with early-onset Alzheimer's disease.

Bagyinszky E et al.

Neurobiology of Aging, 2019

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

Giau VV et al.

International Journal of Molecular Sciences, 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."