|
rs397516457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs397516457
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs397516457
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Hypertrophic Cardiomyopathy Without Ventricular Hypertrophy: Usefulness of Genetic and Pathological Study in Preventing Sudden Death.
|
28073646 |
2017 |
|
rs397516457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
|
26507537 |
2016 |
|
rs397516457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
|
rs397516457
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
|
23074333 |
2012 |
|
rs397516457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
|
20624503 |
2011 |
|
rs397516457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.
|
20031602 |
2009 |
|
rs397516457
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.
|
18258667 |
2008 |
|
rs397516457
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction.
|
14722098 |
2004 |
|
rs397516457
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In contrast, a missense mutation R94L in the vicinity of the strong tropomyosin-binding region associated with hypertrophic cardiomyopathy (HCM) resulted in an increase in the Ca(2+) sensitivity of force generation, as in the case of the other HCM-causing mutations in cTnT reported previously.
|
14654368 |
2003 |
|
rs397516457
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
In contrast, a missense mutation R94L in the vicinity of the strong tropomyosin-binding region associated with hypertrophic cardiomyopathy (HCM) resulted in an increase in the Ca(2+) sensitivity of force generation, as in the case of the other HCM-causing mutations in cTnT reported previously.
|
14654368 |
2003 |
|
rs397516457
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
|
rs397516457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
|
10525521 |
1999 |
|
rs397516457
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
|
10525521 |
1999 |