rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
|
15858117 |
2005 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Quantification of mutant versus wild-type myosin in human muscle biopsies using nano-LC/ESI-MS.
|
18020371 |
2007 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
|
1552912 |
1992 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
|
11133230 |
2001 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
"Sudden cardiac death in familial hypertrophic cardiomyopathy: are ""benign"" mutations really benign?"
|
9271024 |
1997 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.
|
9172070 |
1997 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
|
20624503 |
2011 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.
|
24829265 |
2014 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.
|
11377367 |
2001 |
rs121913627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy.
|
20819418 |
2010 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.
|
9826622 |
1998 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.
|
8281650 |
1994 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.
|
21769673 |
2011 |
rs121913627
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome.
|
8981935 |
1996 |