rs397516153
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
|
25935763 |
2015 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
|
23690394 |
2013 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.
|
23549607 |
2013 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Conduction abnormalities in pediatric patients with restrictive cardiomyopathy.
|
22260945 |
2012 |
rs727503244
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.
|
20818890 |
2010 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.
|
20394946 |
2010 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
rs397516153
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.
|
18380764 |
2008 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.
|
18076673 |
2008 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].
|
17125710 |
2006 |
rs727503260
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs727503269
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|