Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.H733P
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APP

NM_000484.4:p.H733P

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

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Hsu S et al.

Neurobiology of Disease, 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

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Guerreiro RJ et al.

Neurobiology of Aging, 2010

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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."