|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Atlas of the clinical genetics of human dilated cardiomyopathy.
|
25163546 |
2015 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
A rising titan: TTN review and mutation update.
|
24980681 |
2014 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Hereditary myopathy with early respiratory failure: occurrence in various populations.
|
23606733 |
2014 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
GeneticVariation |
CLINVAR |
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
|
27813223 |
2017 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
|
12145747 |
2002 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
|
24119082 |
2013 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
GeneticVariation |
CLINVAR |
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
|
25214167 |
2014 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.
|
24636144 |
2014 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.
|
25500009 |
2015 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
GeneticVariation |
CLINVAR |
Atlas of the clinical genetics of human dilated cardiomyopathy.
|
25163546 |
2015 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.
|
27868403 |
2017 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
|
22526018 |
2012 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
|
17444505 |
2007 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
|
26315439 |
2015 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.
|
28045975 |
2017 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
|
28611029 |
2017 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
|
15728284 |
2005 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
|
28877744 |
2017 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
GeneticVariation |
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
GeneticVariation |
CLINVAR |
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
|
26084686 |
2015 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
CausalMutation |
CLINVAR |
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
|
23486992 |
2014 |
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Cardiomyopathy, Dilated, 1g
|
0.100 |
GeneticVariation |
CLINVAR |
Prevalence of Titin Truncating Variants in General Population.
|
26701604 |
2015 |