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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.

Authors :
Stutzman MJ
Ye D
Tester DJ
Giudicessi JR
Ackerman MJ
Source :
HeartRhythm case reports [HeartRhythm Case Rep] 2018 Dec 11; Vol. 5 (3), pp. 163-168. Date of Electronic Publication: 2018 Dec 11 (Print Publication: 2019).
Publication Year :
2018

Details

Language :
English
ISSN :
2214-0271
Volume :
5
Issue :
3
Database :
MEDLINE
Journal :
HeartRhythm case reports
Publication Type :
Report
Accession number :
30891416
Full Text :
https://doi.org/10.1016/j.hrcr.2018.11.019