rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
|
26507537 |
2016 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
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 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
|
21267010 |
2011 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Shared genetic causes of cardiac hypertrophy in children and adults.
|
18403758 |
2008 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs397516456
|
|
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 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.
|
11034944 |
2000 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
|
10617660 |
2000 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.
|
10085122 |
1999 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
|
10525521 |
1999 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
|
9482583 |
1998 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.
|
9201030 |
1997 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Sudden death due to troponin T mutations.
|
9060892 |
1997 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sudden death due to troponin T mutations.
|
9060892 |
1997 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.
|
9140840 |
1997 |
rs397516456
|
|
|
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 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.
|
8951566 |
1996 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
rs397516456
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |
rs397516456
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |