rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
|
24510615 |
2014 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.
|
24865491 |
2014 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
|
23690394 |
2013 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
|
23140321 |
2012 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
|
20624503 |
2011 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.
|
20439259 |
2010 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
|
11499719 |
2001 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.
|
10610770 |
1999 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes.
|
9503187 |
1998 |
rs397515937
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
|
7493026 |
1995 |