|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
|
28790153 |
2017 |
|
rs397516354
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
|
27600940 |
2016 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.
|
25940119 |
2016 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
|
27600940 |
2016 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.
|
25940119 |
2016 |
|
rs397516354
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
|
24510615 |
2014 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
|
24510615 |
2014 |
|
rs397516354
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.
|
24113344 |
2014 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.
|
23967088 |
2013 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.
|
23967088 |
2013 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy.
|
23270746 |
2013 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
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 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
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 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
|
21511876 |
2011 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
|
21511876 |
2011 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
|
16352453 |
2006 |
|
rs397516354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
|
16352453 |
2006 |
|
rs397516354
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
|
15698845 |
2005 |
|
rs397516354
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
|
rs397516354
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
|
15698845 |
2005 |