Varaico: Literature-Extracted Genetic Variants

Gene:PIN1
Variant:p.T152M
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PIN1

NM_006221.4:p.T152M

Associated Papers

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Khani M et al.

Molecular Neurodegeneration, 2022

The prolyl-isomerase PIN1 is essential for nuclear Lamin-B structure and function and protects heterochromatin under mechanical stress.

Napoletano F et al.

Cell Reports, 2021

Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Park JS et al.

Nature Communications, 2019

A Guide to PIN1 Function and Mutations Across Cancers.

El Boustani M et al.

Frontiers in Pharmacology, 2018

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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."