rs121913630
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The finding of HCM-specific pathology in neonatal R723G-piglets suggests a very early onset of the disease and highlights the importance of novel large animal models for studying causative mechanisms and long-term progression of human cardiac diseases.
|
29555974 |
2018 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
|
25935763 |
2015 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes.
|
23318932 |
2013 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
|
21310275 |
2011 |
rs121913630
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
|
20359594 |
2010 |
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 |
CausalMutation |
CLINVAR |
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.
|
19651039 |
2009 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.
|
17097032 |
2006 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy.
|
12117842 |
2002 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.
|
11113006 |
2000 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
|
9829907 |
1998 |
rs121913630
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
|
1430197 |
1992 |
rs121913630
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
|
1430197 |
1992 |
rs121913630
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|