Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication

Detalles Bibliográficos
Autores principales: Stutzman, Marissa J., Ye, Dan, Tester, David J., Giudicessi, John R., Ackerman, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404365/
https://www.ncbi.nlm.nih.gov/pubmed/30891416
http://dx.doi.org/10.1016/j.hrcr.2018.11.019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404365/
https://www.ncbi.nlm.nih.gov/pubmed/30891416
http://dx.doi.org/10.1016/j.hrcr.2018.11.019

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