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Journal article

Reevaluating the genetic contribution of monogenic dilated cardiomyopathy

Abstract:

BACKGROUND:Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based on candidate-gene studies that did not adequately account for background population variation. Here we define the frequency of rare variation in 2538 patients with DCM across protein-coding regions of 56 commonly tested genes and compare this to both 912 confirmed healthy controls and a reference popula...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1161/circulationaha.119.037661

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Role:
Author
ORCID:
0000-0002-6159-9980
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Publisher:
American Heart Association Publisher's website
Journal:
Circulation Journal website
Volume:
141
Issue:
5
Pages:
387-398
Publication date:
2020-02-01
Acceptance date:
2019-11-14
DOI:
EISSN:
1524-4539
ISSN:
0009-7322
Pmid:
31983221
Language:
English
Keywords:
Pubs id:
1086050
Local pid:
pubs:1086050
Deposit date:
2020-02-25

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