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

Abstract:

Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD). These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding variants, not detected by GWAS, are predicted to include functional variants with larger effects on risk. To identify low-frequency coding variants with large effects on LOAD risk, we carried out whole-exome sequencing (WES) in 14 la...

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Publication status:
Published

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Publisher copy:
10.1038/nature12825

Authors


Cruchaga, C More by this author
Benitez, BA More by this author
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Journal:
Nature
Volume:
505
Issue:
7484
Pages:
550-554
Publication date:
2014-01-05
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
URN:
uuid:202ba1dc-5084-4893-99ef-c50efa59a3d0
Source identifiers:
444163
Local pid:
pubs:444163

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