rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913630
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.
|
24928957 |
2014 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes?
|
24268868 |
2013 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences.
|
23580644 |
2013 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.
|
23751935 |
2013 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.
|
22213221 |
2012 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy.
|
22735528 |
2012 |
rs121913630
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
|
23074333 |
2012 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.
|
21769673 |
2011 |
rs121913630
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
|
21835320 |
2011 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
The left and right ventricle of a patient with a R723G mutation of the beta-myosin heavy chain and severe hypertrophic cardiomyopathy show no differences in the expression of myosin mRNA.
|
20865685 |
2010 |
rs121913630
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
|
20359594 |
2010 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.
|
19651039 |
2009 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.
|
17351073 |
2007 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface.
|
17987111 |
2007 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Quantification of mutant versus wild-type myosin in human muscle biopsies using nano-LC/ESI-MS.
|
18020371 |
2007 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
[Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene in a Chinese pedigree].
|
16630450 |
2006 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.
|
17097032 |
2006 |
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.
|
15550524 |
2005 |
rs121913630
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |