Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G111V
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PSEN1

NM_000021.4:p.G111V

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

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

Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Quan M et al.

Alzheimer's Research & Therapy, 2020

Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease.

Qiu Q et al.

Neurobiology of Aging, 2020

PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.

Jia L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

Defining amino acid residues involved in DNA-protein interactions and revelation of 3'-exonuclease activity in endonuclease V.

Feng H et al.

Biochemistry, 2005

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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."