Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.K418R
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PLD3

NM_012268.4:p.K418R

Associated Papers

Structural analysis of PLD3 reveals insights into the mechanism of lysosomal 5' exonuclease-mediated nucleic acid degradation.

Roske Y et al.

Nucleic Acids Research, 2024

PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer's disease.

Nackenoff AG et al.

Plos Genetics, 2021

PLD3 gene and processing of APP.

Fazzari P et al.

Nature, 2017

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Cruchaga C et al.

Nature, 2014

Quantification and characterization of the 5' exonuclease activity of the lysosomal nuclease PLD3 by a novel cell-based assay.

Cappel C et al.

The Journal of Biological Chemistry, 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."