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rs137854617 in
SCN5A gene and
Brugada Syndrome 1
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PMID 10690282 1999 Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
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PMID 16325048 2005 High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
PMID 19251209 2009 Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
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PMID 16616735 2006 A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
PMID 18451998 2008 The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
PMID 16266370 2005 Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.
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rs137854617 in
SCN5A gene and
LONG QT SYNDROME 3
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PMID 10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
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