Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M93V
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PSEN1

NM_000021.4:p.M93V

Associated Papers

The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.

McGrath MJ et al.

Febs Letters, 2025

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Rossi G et al.

Frontiers in Aging Neuroscience, 2022

Two domains within the first putative transmembrane domain of presenilin 1 differentially influence presenilinase and gamma-secretase activity.

Brunkan AL et al.

Journal of Neurochemistry, 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."