|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
[Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].
|
23906401 |
2013 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
[Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].
|
23906401 |
2013 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
|
21533915 |
2011 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.
|
20161772 |
2010 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.
|
20161772 |
2010 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.
|
19289050 |
2009 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.
|
19449150 |
2009 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.
|
19449150 |
2009 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.
|
19289050 |
2009 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.
|
18408133 |
2008 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling.
|
17463320 |
2007 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling.
|
17463320 |
2007 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
|
16531415 |
2006 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.
|
17027633 |
2006 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
|
16531415 |
2006 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out.
|
15961398 |
2005 |
|
rs104894729
|
|
|
0.710 |
GeneticVariation |
BEFREE |
To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out.
|
15961398 |
2005 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out.
|
15961398 |
2005 |
|
rs104894729
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
|
rs104894729
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
|
rs104894729
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|