Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I211M
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PSEN1

NM_000021.4:p.I211M

Associated Papers

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

Evaluating pathogenic dementia variants in posterior cortical atrophy.

Carrasquillo MM et al.

Neurobiology of Aging, 2016

A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.

Sitek EJ et al.

Plos One, 2013

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.

Larner AJ

Journal of Alzheimer's Disease : Jad, 2013

First report of PSEN2 mutation presenting as posterior cortical atrophy.

Tremolizzo L 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."