rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy.
|
28538763 |
2017 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
|
28679633 |
2017 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
|
22267749 |
2012 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
|
21239446 |
2011 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
|
20433692 |
2010 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy.
|
20738943 |
2010 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
|
16858239 |
2006 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
|
15519027 |
2004 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.
|
10610770 |
1999 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.
|
9631872 |
1998 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
|
9048664 |
1997 |