Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G111W
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PSEN1

NM_000021.4:p.G111W

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

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

The role of de novo mutations in adult-onset neurodegenerative disorders.

Nicolas G et al.

Acta Neuropathologica, 2019

30478624 (PubMed )
Supplement: 401_2018_1939_MOESM1_ESM.xlsx › Supp_Table_1_AD

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.

Lacour M et al.

Journal of Alzheimer's Disease : Jad, 2019

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Lanoiselée HM et al.

Plos Medicine, 2017

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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."