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Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation
BACKGROUND: Pathogenic RYR2 variants account for ~60% of clinically definite cases of catecholaminergic polymorphic ventricular tachycardia (CPVT). However, the rate of rare benign RYR2 variants identified in the general population remains a challenge for genetic test interpretation. Therefore, we e...
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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: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6364978/ https://ncbi.nlm.nih.gov/pubmed/29453246 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.116.001424 |
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