rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.
|
20161772 |
2010 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.
|
19289050 |
2009 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.
|
18408133 |
2008 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants.
|
18423659 |
2008 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling.
|
17463320 |
2007 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.
|
17027633 |
2006 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
|
16531415 |
2006 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
rs104894729
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|