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Article

Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population

2022-01-06

Abstract excerpt

<h4>Background</h4> Pathogenic and likely pathogenic variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are recommended to be reported as secondary findings in genome sequencing studies. This provides opportunities for early diagnosis, but also fuels uncertainty in variant carriers (G+), since disease penetrance is in...

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Literature Corpus work
bbe2a79a-6d20-5181-adfa-a616204a30b7
DOI
10.1101/2022.01.06.22268837
Open publication

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Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general populationDOI 10.1101/2022.01.06.22268837
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