|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
|
25705178 |
2015 |
|
Long QT Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A molecular mechanism for adrenergic-induced long QT syndrome.
|
24184248 |
2014 |
|
Long QT Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia.
|
24357532 |
2014 |
|
Congenital long QT syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia.
|
24357532 |
2014 |
|
Long QT Syndrome
|
|
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 |
|
Congenital long QT syndrome
|
|
0.700 |
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 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
|
21241800 |
2011 |
|
Long QT Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.
|
19934648 |
2010 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
|
19808498 |
2009 |
|
Long QT Syndrome
|
|
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 |
|
Congenital long QT syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
Congenital long QT syndrome
|
|
0.700 |
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 |
|
Long QT Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
|
18165683 |
2008 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
Congenital long QT syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.
|
16556865 |
2006 |
|
Long QT Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.
|
16556865 |
2006 |
|
Long QT Syndrome 1
|
|
0.800 |
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
|
15466642 |
2004 |
|
Congenital long QT syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
|
15466642 |
2004 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
|
12442276 |
2002 |
|
Congenital long QT syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
Long QT Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
|
10220146 |
1999 |