Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.C300Y
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PLD3

NM_012268.4:p.C300Y

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

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.

Cacace R et al.

Human Mutation, 2015

PLD3 variants in population studies.

van der Lee SJ et al.

Nature, 2015

PLD3 in non-familial Alzheimer's disease.

Heilmann S et al.

Nature, 2015

Cruchaga & Goate reply.

Cruchaga C et al.

Nature, 2015

Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.

Schulte EC et al.

Human Genome Variation, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 692.274

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."