High-Throughput Reclassification of SCN5A Variants
Author:
Funder
NIH Shared Instrumentation Grant
NIH
American Heart Association
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference70 articles.
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3. Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy;Moreau;J. Gen. Physiol.,2015
4. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system;Bezzina;Circ. Res.,2003
5. Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome;Gui;PLoS ONE,2010
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