|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
|
25417810 |
2014 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
|
23303164 |
2013 |
|
rs199472944
|
|
A |
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 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
An electrifying iPSC disease model: long QT syndrome type 2 and heart cells in a dish.
|
21295269 |
2011 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Induced pluripotent stem cell-derived cardiomyocytes and long QT syndrome: is personalized medicine ready for prime time?
|
21960720 |
2011 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pluripotent stem cell models of cardiac disease and their implication for drug discovery and development.
|
21703926 |
2011 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Modelling the long QT syndrome with induced pluripotent stem cells.
|
21240260 |
2011 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation.
|
21367833 |
2011 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals.
|
21185501 |
2011 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan.
|
19996378 |
2010 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
|
19843919 |
2009 |
|
rs199472944
|
|
A |
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 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of the gene causing long QT syndrome in an Israeli family.
|
19070294 |
2008 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
|
18808722 |
2008 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hydroxyzine, a first generation H(1)-receptor antagonist, inhibits human ether-a-go-go-related gene (HERG) current and causes syncope in a patient with the HERG mutation.
|
19057127 |
2008 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
|
18441445 |
2008 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
|
18752142 |
2008 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
|
16432067 |
2006 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Long-term follow-up of notched T waves in female patients with LQT2 (HERG) mutations.
|
15090700 |
2004 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
|
11854117 |
2002 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
rs199472944
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Low penetrance in the long-QT syndrome: clinical impact.
|
9927399 |
1999 |