Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.V191E
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PSEN2

NM_000447.3:p.V191E

Associated Papers

A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.

Yang Y et al.

International Journal of Molecular Sciences, 2024

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Ibanez L et al.

Frontiers in Neuroscience, 2018

Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Cai Y et al.

Clinical Interventions in Aging, 2015

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

Meeus B et al.

Neurobiology of Aging, 2012

Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.

Colijn MA 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."