Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y195C
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PSEN1

NM_000021.4:p.Y195C

Associated Papers

Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.

Jih KY et al.

Alzheimer's Research & Therapy, 2025

Genetic Study of Alzheimer's Disease in Saudi Population.

El Bitar F et al.

Journal of Alzheimer's Disease : Jad, 2019

Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

Tominaga A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Vilarinho L et al.

Journal of Human Genetics, 2010

Genetic Variants Associated With Alzheimer Disease in the 22 Arab Countries: A Systematic Review.

Al-Thani HF et al.

Alzheimer Disease and Associated Disorders, 0

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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."