|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
|
24606995 |
2014 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.
|
22727609 |
2013 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.
|
23130128 |
2012 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
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 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
|
22949429 |
2012 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.
|
21451124 |
2011 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels.
|
19590188 |
2009 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
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 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
|
17470695 |
2007 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mechanisms of I(Ks) suppression in LQT1 mutants.
|
11087258 |
2000 |
|
rs199473456
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Low penetrance in the long-QT syndrome: clinical impact.
|
9927399 |
1999 |
|
rs199473456
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|