Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.K724M
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APP

NM_000484.4:p.K724M

Associated Papers

Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling.

Voesenek BJB et al.

Neurobiology of Disease, 2026

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

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

The Genetics of Alzheimer's Disease in the Chinese Population.

Gan CL et al.

International Journal of Molecular Sciences, 2020

Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Bi C et al.

Aging and Disease, 2019

Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.

Zhang G et al.

Journal of the Neurological Sciences, 2017

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.

Shea YF et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2016

Delayed diagnosis of an old Chinese woman with familial Alzheimer's disease.

Shea YF et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015

A Novel AβPP M722K Mutation Affects Amyloid-β Secretion and Tau Phosphorylation and May Cause Early-Onset Familial Alzheimer's Disease in Chinese Individuals.

Wang Q et al.

Journal of Alzheimer's Disease : Jad, 2015

Novel APP K724M mutation causes Chinese early-onset familial Alzheimer's disease and increases amyloid-β42 to amyloid-β40 ratio.

Peng XL et al.

Neurobiology of 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."