CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
|
30681346 |
2019 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.
|
24113344 |
2014 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy.
|
23270746 |
2013 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.
|
22876777 |
2012 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
|
21511876 |
2011 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.
|
21799269 |
2011 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
|
21533915 |
2011 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
|
15698845 |
2005 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
|
15607392 |
2004 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
|
12860912 |
2003 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
|
11815426 |
2002 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy.
|
11735257 |
2001 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
|
10806205 |
2000 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
|
9241277 |
1997 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|