|
rs121913630
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Hypertrophic cardiomyopathy <i>MYH7</i>-mutation R723G alters mRNA secondary structure.
|
31790337 |
2020 |
|
rs121913630
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs.
|
29555974 |
2018 |
|
rs121913630
|
|
C |
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
|
|
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 |
|
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
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages.
|
20819418 |
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 |
|
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
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The mutation of Arg723Gly in a Chinese family with HCM was detected for the first time.
|
17097032 |
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 |
[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 |
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 |
|
rs121913630
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs121913630
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.
|
11113006 |
2000 |
|
rs121913630
|
|
A |
0.740 |
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 |
0.740 |
CausalMutation |
CLINVAR |
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
|
7731997 |
1995 |
|
rs121913630
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
|
1430197 |
1992 |