Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.E423A
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PLD3

NM_012268.4:p.E423A

Associated Papers

PLD3 and PLD4 synthesize S,S-BMP, a key phospholipid enabling lipid degradation in lysosomes.

Singh S et al.

Cell, 2024

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

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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