Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis

BACKGROUND: Sudden unexplained death (SUD) refers to cases of sudden death where autopsy fails to identify any cardiac or extracardiac underlying cause. Guideline‐directed standard genetic testing identifies a disease‐causing mutation in less than one‐third of cases of SUD. Conversely, whole exome s...

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Detalles Bibliográficos
Autores principales: Modena, Martina, Castiglione, Vincenzo, Aretini, Paolo, Mazzanti, Chiara M., Chiti, Enrica, Giannoni, Alberto, Emdin, Michele, Di Paolo, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196487/
https://www.ncbi.nlm.nih.gov/pubmed/32101375
http://dx.doi.org/10.1002/mgg3.1182

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196487/
https://www.ncbi.nlm.nih.gov/pubmed/32101375
http://dx.doi.org/10.1002/mgg3.1182

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