Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.I163M
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PLD3

NM_012268.4:p.I163M

Associated Papers

Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.

Zhang Z et al.

Diagnostics (basel, Switzerland), 2025

41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S2.xls › Genetic_Analysis_Variant_List

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

Structural and mechanistic insights into disease-associated endolysosomal exonucleases PLD3 and PLD4.

Yuan M et al.

Biorxiv : the Preprint Server for Biology, 2023

Genetic profiles of familial late-onset Alzheimer's disease in China: The Shanghai FLOAD study.

Xie XY et al.

Genes & Diseases, 2022

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.

Zhou W et al.

Jbmr Plus, 2022

35991532 (PubMed )
Supplement: JBM4-6-e10659-s002.xlsx › Supl1.Dominant_model

Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Zhang W et al.

Annals of Clinical and Translational Neurology, 2020

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

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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."