Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.N236S
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PLD3

NM_012268.4:p.N236S

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

Phospholipase D3 degrades mitochondrial DNA to regulate nucleotide signaling and APP metabolism.

Van Acker ZP et al.

Nature Communications, 2023

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."