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Prevalence and Electronic Health Record-based Phenotype of Loss-of-function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-associated Genes
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants, primarily loss-of-function (LOF) variants, are recommended for clinical reporting; however, their prevalence and associated...
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| 出版年: | Circ Genom Precis Med |
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| 主要な著者: | , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6876858/ https://ncbi.nlm.nih.gov/pubmed/31638835 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.119.002579 |
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