CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.
|
23663841 |
2013 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
|
23233322 |
2013 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.
|
27036851 |
2016 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
|
15542288 |
2004 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.
|
22334656 |
2012 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.
|
11034944 |
2000 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.
|
22144547 |
2012 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
[Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene].
|
17456375 |
2007 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
|
21551322 |
2011 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
|
15623536 |
2005 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
The chromosome, its anatomy, and its aberrations.
|
2003160 |
1991 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement.
|
19487599 |
2009 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice.
|
16326803 |
2005 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
|
10617660 |
2000 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.
|
8951566 |
1996 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Conduction abnormalities in pediatric patients with restrictive cardiomyopathy.
|
22260945 |
2012 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |