Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E232K
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APP

NM_000484.4:p.E232K

Associated Papers

The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.

Xiao X et al.

Cns Neuroscience & Therapeutics, 2023

Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Mao C et al.

Current Alzheimer Research, 2021

34102969 (PubMed )
Supplement: CAR-18-265_SD1.pdf

Spontaneous Pisa syndrome in a patient with early-onset Alzheimer's disease.

Woo KA et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cochran JN et al.

Cold Spring Harbor Molecular Case Studies, 2019

31836585 (PubMed )
Supplement: supp_mcs.a003491_Supplemental_Table_1.xlsx › Probands_Summary

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.

Cacace R et al.

Human Mutation, 2015

Structural and functional basis of the serine protease-like hepatocyte growth factor beta-chain in Met binding and signaling.

Kirchhofer D et al.

The Journal of Biological Chemistry, 2004

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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."