Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y189C
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PSEN1

NM_000021.4:p.Y189C

Associated Papers

Clinical and Genetic Characteristics of Patients with Essential Tremor Who Develop Parkinson's Disease.

Buyukserbetci G et al.

Medicina (kaunas, Lithuania), 2025

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Fedida J et al.

Plos One, 2017

Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

Tominaga A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

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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."