Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y156F
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PSEN1

NM_000021.4:p.Y156F

Associated Papers

Protein Structure Prediction for Disease-Related Insertions/Deletions in Presenilin 1 Gene.

Avramouli A et al.

Advances in Experimental Medicine and Biology, 2023

A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.

O'Connor A et al.

Neurobiology of Aging, 2021

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

Rogaeva EA et al.

Neurology, 2001

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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."