Cardiomyopathy, Dilated
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The kinase domain of titin controls muscle gene expression and protein turnover.
|
15802564 |
2005 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
|
25448463 |
2014 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
|
12145747 |
2002 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
|
16733766 |
2006 |
Cardiomyopathy, Dilated
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Truncations of titin causing dilated cardiomyopathy.
|
22335739 |
2012 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
|
17444505 |
2007 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
|
23418287 |
2013 |
Cardiomyopathy, Dilated
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Atlas of the clinical genetics of human dilated cardiomyopathy.
|
25163546 |
2015 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
Cardiomyopathy, Dilated
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
|
26735901 |
2016 |
Cardiomyopathy, Dilated
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
|
26899768 |
2016 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Truncations of titin causing dilated cardiomyopathy.
|
22335739 |
2012 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
|
24119082 |
2013 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Neuromuscular transmission defects in myopathies: Rare but worth searching for.
|
30536954 |
2019 |