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
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author Stutzman, Marissa J.
Ye, Dan
Tester, David J.
Giudicessi, John R.
Ackerman, Michael J.
author_facet Stutzman, Marissa J.
Ye, Dan
Tester, David J.
Giudicessi, John R.
Ackerman, Michael J.
author_sort Stutzman, Marissa J.
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spelling pubmed-64043652019-03-19 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 Stutzman, Marissa J. Ye, Dan Tester, David J. Giudicessi, John R. Ackerman, Michael J. HeartRhythm Case Rep Case Report Elsevier 2018-12-11 /pmc/articles/PMC6404365/ /pubmed/30891416 http://dx.doi.org/10.1016/j.hrcr.2018.11.019 Text en © 2019 Heart Rhythm Society. Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Stutzman, Marissa J.
Ye, Dan
Tester, David J.
Giudicessi, John R.
Ackerman, Michael J.
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Case Report
url 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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