rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
|
15114369 |
2004 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
|
9541115 |
1998 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
|
11815426 |
2002 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
|
12951062 |
2003 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.
|
28265379 |
2017 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?
|
7744002 |
1995 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
|
9562578 |
1998 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.
|
18929575 |
2008 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
|
23840593 |
2013 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.
|
9541104 |
1998 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
|
11499718 |
2001 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
|
18957093 |
2008 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
|
15519027 |
2004 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
|
12628722 |
2003 |
rs1060501474
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
|
11499719 |
2001 |