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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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Bibliografiset tiedot
Julkaisussa:Circ Genom Precis Med
Päätekijät: Kapplinger, Jamie D., Pundi, Krishna N., Larson, Nicholas B., Callis, Thomas E., Tester, David J., Bikker, Hennie, Wilde, Arthur A.M., Ackerman, Michael J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
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Linkit: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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