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Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.

Ravi Ajay ShahBabken AsatryanGhaith Sharaf DabbaghNay AungMohammed Yunus KhanjiLuis Rocha LopesStefan van DuijvenbodenAnthony HolmesDaniele MuserAndrew P LandstromAaron Mark LeePankaj AroraChristopher SemsarianVirend K SomersAnjali Tiku OwensPatricia B MunroeSteffen Erhard PetersenChoudhary Anwar A Chahalnull null
Published in: Circulation (2022)
In the UK Biobank, ≈1 of 6 of adults with putative pathogenic variants in DCM genes exhibited early DCM features potentially associated with DCM genotype, most commonly manifesting with arrhythmias in the absence of substantial ventricular dilation or dysfunction.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • cross sectional
  • heart failure
  • dna methylation
  • left ventricular
  • oxidative stress
  • genome wide analysis
  • congenital heart disease
  • gene expression