rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs397516357
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Whole-exome sequencing analysis identified a mutation in TNNI3, R186Q, that co-segregated with the disease in the family, but did not exist in >1583 controls, suggesting that R186Q causes AF and HCM.
|
26169204 |
2016 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population.
|
26169204 |
2016 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Dramatically different phenotypic expressions of hypertrophic cardiomyopathy in male cousins undergoing cardiac transplantation with identical disease-causing gene mutation.
|
23540544 |
2013 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy and planned in vitro fertilization. Genetic testing and clinical evaluation.
|
22301726 |
2012 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
|
21310275 |
2011 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
|
20624503 |
2011 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
|
21239446 |
2011 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.
|
16020591 |
2005 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
|
15607392 |
2004 |
rs397516357
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |