Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.
|
27161882 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
|
25935763 |
2015 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
|
20624503 |
2011 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy.
|
18953637 |
2009 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.
|
12084606 |
2002 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family.
|
9874056 |
1998 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication.
|
9062359 |
1997 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
|
8282798 |
1994 |