|
rs397516457
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
|
rs397516457
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
|
20624503 |
2011 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
|
rs397516457
|
|
A |
0.800 |
CausalMutation |
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs397516457
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
|
14654368 |
2003 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
rs397516457
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
|
rs397516457
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy.
|
10978365 |
2000 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.
|
11034944 |
2000 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
|
10525521 |
1999 |
|
rs397516457
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
|
10525521 |
1999 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
|
9482583 |
1998 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sudden death due to troponin T mutations.
|
9060892 |
1997 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.
|
9140840 |
1997 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.
|
8989109 |
1996 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
|
rs397516457
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |
|
rs397516457
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The chromosome, its anatomy, and its aberrations.
|
2003160 |
1991 |