|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
|
26392562 |
2015 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
|
21810866 |
2011 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
|
18929331 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.
|
18060054 |
2007 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
|
16414944 |
2005 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
BEFREE |
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.
|
12673799 |
2003 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
|
12454206 |
2003 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.
|
12209021 |
2002 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
|
11304498 |
2001 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.
|
11410597 |
2001 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A molecular link between the sudden infant death syndrome and the long-QT syndrome.
|
10911008 |
2000 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
|
10377081 |
1999 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
|
10508990 |
1999 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.
|
9686753 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
|
10627139 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
|
9506831 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Molecular mechanism for an inherited cardiac arrhythmia.
|
7651517 |
1995 |
|
LONG QT SYNDROME 3
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
|
8541846 |
1995 |