rs36211715
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs371898076
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
|
25935763 |
2015 |
rs3218713
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
|
24691700 |
2015 |
rs36211715
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
rs121913624
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.
|
23751935 |
2013 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes.
|
23318932 |
2013 |
rs36211715
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.
|
23816408 |
2013 |
rs36211715
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
rs371898076
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
|
23233322 |
2013 |
rs371898076
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
rs371898076
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
|
23690394 |
2013 |
rs371898076
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.
|
23290139 |
2013 |
rs371898076
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
rs36211715
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
rs371898076
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.
|
22112859 |
2012 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
|
21310275 |
2011 |
rs36211715
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.
|
21674835 |
2011 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy.
|
20819418 |
2010 |
rs121913630
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
|
20359594 |
2010 |
rs371898076
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.
|
19651039 |
2009 |
rs36211715
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
rs36211715
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
rs121913624
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils.
|
18565996 |
2008 |