Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A434V
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PSEN1

NM_000021.4:p.A434V

Associated Papers

A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report.

Roveta F et al.

Journal of Alzheimer's Disease Reports, 2023

C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.

Wang J et al.

Journal of Neurochemistry, 2006

Impas 1 possesses endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein.

Moliaka YK et al.

Febs Letters, 2004

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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."