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Journal article

Titin-truncating variants affect heart function in disease cohorts and the general population

Abstract:

Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are also encountered in ∼1% of the general population, where they may be silent, perhaps reflecting allelic factors. To better understand TTNtv, we integrated TTN allelic series, cardiac imaging and genomic data in humans and studied rat models with disparate TTNtv. In patients with DCM, TTNtv throughout titin were significantly associated with DCM. Ribosomal profiling in rat showed the translational footprin...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1038/ng.3719

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
H4 RDM CLINICAL LABORATORY SCIENCES
Role:
Author
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Publisher:
Springer Nature Publisher's website
Journal:
Nature Genetics Journal website
Volume:
49
Issue:
1
Pages:
46-53
Publication date:
2016-11-21
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pubs id:
pubs:796056
URN:
uri:850f94c1-5ec3-4f49-94dc-dca625b4a9a6
UUID:
uuid:850f94c1-5ec3-4f49-94dc-dca625b4a9a6
Local pid:
pubs:796056
Paper number:
1

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