rs397516943
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs397516943
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.
|
28588093 |
2017 |
rs397516943
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.
|
26850880 |
2016 |
rs727503000
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.
|
26850880 |
2016 |
rs397516943
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
|
25616645 |
2015 |
rs397516955
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs397516955
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
rs727504443
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
rs397516943
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23810894 |
2013 |
rs727503000
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
|
21859740 |
2011 |
rs727503003
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
|
21606390 |
2011 |
rs727503003
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
|
21859740 |
2011 |
rs727503000
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
rs727503003
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
rs727504443
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
|
20864495 |
2010 |
rs727505115
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
rs727504443
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Skin and heart: une liaison dangereuse.
|
19558499 |
2009 |
rs727504443
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
|
19279339 |
2009 |
rs727504443
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
|
19095136 |
2008 |
rs397516955
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
16917092 |
2006 |
rs397516956
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
|
16467215 |
2006 |
rs397516973
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
16917092 |
2006 |
rs397516956
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
|
11063735 |
2000 |
rs727504443
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
|
10594734 |
1999 |
rs121912997
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|