Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R307S
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PSEN1

NM_000021.4:p.R307S

Associated Papers

Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.

Wężyk M et al.

International Journal of Molecular Sciences, 2023

C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA).

Radziwonik W et al.

Neurologia I Neurochirurgia Polska, 2022

Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.

Wezyk M et al.

Journal of Alzheimer's Disease : Jad, 2018

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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."