|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
|
9535554 |
1998 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
|
21310275 |
2011 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.
|
20855589 |
2010 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
|
8673105 |
1996 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
|
9535554 |
1998 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.
|
16076902 |
2005 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.
|
11102452 |
2001 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
|
12404107 |
2002 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.
|
14594949 |
2004 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants.
|
27378946 |
2016 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
|
12404107 |
2002 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
|
23365102 |
2013 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.
|
11748309 |
2001 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Diastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model mice.
|
19150977 |
2009 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
|
8673105 |
1996 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Fine-tuning in Ca2+ homeostasis underlies progression of cardiomyopathy in myocytes derived from genetically modified embryonic stem cells.
|
15829506 |
2005 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
|
12404107 |
2002 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
Biomarker
|
disease |
CLINGEN |
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.
|
16076902 |
2005 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
|
9535554 |
1998 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice.
|
18987303 |
2009 |