Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance

BACKGROUND: Genetic heterogeneity is common in inherited cardiac diseases. Next-generation sequencing gene panels are therefore suitable for genetic diagnosis. We describe the results of implementation of cardiomyopathy and arrhythmia gene panels in clinical care. METHODS: We present detection rates...

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Detalles Bibliográficos
Autores principales: van Lint, F. H. M., Mook, O. R. F., Alders, M., Bikker, H., Lekanne dit Deprez, R. H., Christiaans, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533346/
https://www.ncbi.nlm.nih.gov/pubmed/30847666
http://dx.doi.org/10.1007/s12471-019-1250-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533346/
https://www.ncbi.nlm.nih.gov/pubmed/30847666
http://dx.doi.org/10.1007/s12471-019-1250-5

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