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Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice

BACKGROUND: Next-generation sequencing gene panels are increasingly used for genetic diagnosis in inherited cardiac diseases. Besides pathogenic variants, multiple variants, variants of uncertain significance (VUS) and incidental findings can be detected. Such test results can be challenging for cou...

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Detalles Bibliográficos
Autores principales: Christiaans, I., Mook, O. R. F., Alders, M., Bikker, H., Lekanne dit Deprez, R. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533326/
https://www.ncbi.nlm.nih.gov/pubmed/30847665
http://dx.doi.org/10.1007/s12471-019-1251-4