rs397516456
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
|
26507537 |
2016 |
rs397516456
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
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
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Shared genetic causes of cardiac hypertrophy in children and adults.
|
18403758 |
2008 |
rs397516456
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
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
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
|
10617660 |
2000 |
rs397516456
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
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
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.
|
9201030 |
1997 |
rs397516456
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Sudden death due to troponin T mutations.
|
9060892 |
1997 |
rs397516456
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
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
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
rs397516456
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |