The phenotype is equally important in promoting variants from benign to pathogenic as well as in demoting variants from pathogenic to benign
- PMID: 29317317
- DOI: 10.1016/j.hrthm.2018.01.007
The phenotype is equally important in promoting variants from benign to pathogenic as well as in demoting variants from pathogenic to benign
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Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.Heart Rhythm. 2018 Apr;15(4):555-561. doi: 10.1016/j.hrthm.2017.11.032. Epub 2017 Dec 2. Heart Rhythm. 2018. PMID: 29197658 Free PMC article.
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