Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.L688V
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APP

NM_000484.4:p.L688V

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

Clinical considerations in early-onset cerebral amyloid angiopathy.

Banerjee G et al.

Brain : a Journal of Neurology, 2023

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

Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.

Kalampokini S et al.

International Journal of Molecular Sciences, 2021

Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome.

Psychogios K et al.

European Journal of Neurology, 2021

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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."