Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.R356H
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PLD3

NM_012268.4:p.R356H

Associated Papers

Crystal structure of Alzheimer's disease phospholipase D3 provides a molecular basis for understanding its normal and pathological functions.

Ishii K et al.

The Febs Journal, 2024

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

PLD3 Rare Variants Identified in Late-Onset Alzheimer's Disease Affect Amyloid-β Levels in Cellular Model.

Tan M et al.

Frontiers in Neuroscience, 2019

Rare Variants in PLD3 Increase Risk for Alzheimer's Disease in Han Chinese.

Tan MS et al.

Journal of Alzheimer's Disease : Jad, 2018

Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.

Schulte EC et al.

Human Genome Variation, 2015

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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."