Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.K228R
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PLD3

NM_012268.4:p.K228R

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

PLD3 in Alzheimer's disease.

Wang J et al.

Molecular Neurobiology, 2015

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

Cruchaga C et al.

Nature, 2014

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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."