rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Familial Hypertrophic Cardiomyopathy Type 4
0.700
GeneticVariation
UNIPROT
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
23840593
2013
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Familial Hypertrophic Cardiomyopathy Type 4
0.700
GeneticVariation
UNIPROT
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.
28265379
2017
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Familial Hypertrophic Cardiomyopathy Type 4
0.700
GeneticVariation
UNIPROT
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
9541115
1998
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Familial Hypertrophic Cardiomyopathy Type 4
0.700
GeneticVariation
UNIPROT
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
12818575
2003
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Familial Hypertrophic Cardiomyopathy Type 4
0.700
GeneticVariation
UNIPROT
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
12974739
2003
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Familial Hypertrophic Cardiomyopathy Type 4
0.700
GeneticVariation
UNIPROT
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
15519027
2004
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Familial Hypertrophic Cardiomyopathy Type 4
0.700
GeneticVariation
UNIPROT
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
11815426
2002
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
rs397516070
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
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