Journal article
Reevaluating the genetic contribution of monogenic dilated cardiomyopathy
- Abstract:
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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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- Files:
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(Version of record, 863.2KB)
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- Publisher copy:
- 10.1161/circulationaha.119.037661
Authors
Bibliographic Details
- 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:
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1524-4539
- ISSN:
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0009-7322
- Pmid:
-
31983221
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
1086050
- Local pid:
- pubs:1086050
- Deposit date:
- 2020-02-25
Terms of use
- Copyright holder:
- Mazzarotto et al.
- Copyright date:
- 2020
- Rights statement:
- © 2020 The Authors. Circulation is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.
- Licence:
- CC Attribution (CC BY)
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