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Clinical impact of low coverage in whole-exome genetic testing in the assessment of familial arrhythmogenic right ventricular cardiomyopathy: a case report

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited condition, with approximately 60% of patients carrying a possibly disease-causing genetic variant. Known desmosomal genes account for about 50% of those variants. We herein report a family with ARVC in which a pathoge...

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Detalhes bibliográficos
Publicado no:Eur Heart J Case Rep
Main Authors: Costa, Sarah, Pons, Elisa, Medeiros-Domingo, Argelia, Saguner, Ardan M
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8274652/
https://ncbi.nlm.nih.gov/pubmed/35721821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ehjcr/ytab111
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