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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.
- 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