|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Probability of diagnosing long QT syndrome in children and adolescents according to the criteria of the HRS/EHRA/APHRS expert consensus statement.
|
27026747 |
2016 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.
|
26675252 |
2015 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.
|
25037568 |
2014 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
|
22949429 |
2012 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.
|
22456477 |
2012 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
rs199473480
|
|
|
0.710 |
GeneticVariation |
BEFREE |
By using in vitro electrophysiological testing of transfected mutant and wild-type long-QT syndrome constructs into Chinese hamster ovary cells, we investigated the biophysical properties of 9 KCNQ1 missense mutations (A46T, T265I, F269S, A302V, G316E, F339S, R360G, H455Y, and S546L) identified in a New Zealand-based long-QT syndrome screening program.
|
19808498 |
2009 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
By using in vitro electrophysiological testing of transfected mutant and wild-type long-QT syndrome constructs into Chinese hamster ovary cells, we investigated the biophysical properties of 9 KCNQ1 missense mutations (A46T, T265I, F269S, A302V, G316E, F339S, R360G, H455Y, and S546L) identified in a New Zealand-based long-QT syndrome screening program.
|
19808498 |
2009 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Long QT and Brugada syndrome gene mutations in New Zealand.
|
17905336 |
2007 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
rs199473480
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
|
15466642 |
2004 |