scholarly article | Q13442814 |
P2093 | author name string | J D Roberts | |
J P van Tintelen | |||
R M Gow | |||
A C P Wiesfeld | |||
D Dooijes | |||
J C Herkert | |||
J Rutberg | |||
M H Gollob | |||
S M Nikkel | |||
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Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy | Q34158032 | ||
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Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S | Q34727600 | ||
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Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene | Q57200485 | ||
Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy | Q57901803 | ||
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. | Q64934138 | ||
A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism | Q84231492 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Gap junction protein alpha 1 | Q2356259 |
arrhythmogenic right ventricular cardiomyopathy | Q2555727 | ||
Desmoplakin | Q5264821 | ||
junction plakoglobin | Q21139990 | ||
regulation of ventricular cardiac muscle cell action potential | Q22299880 | ||
Plakophilin 2 | Q22683547 | ||
P304 | page(s) | 452-6 | |
P577 | publication date | 2013-05-01 | |
P1433 | published in | Clinical Genetics | Q5133760 |
P1476 | title | Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy | |
P478 | volume | 83 |
Q58567899 | A large familial pathogenic Plakophilin-2 gene () deletion manifesting with sudden cardiac death and lone atrial fibrillation: Evidence for alternating atrial and ventricular phenotypes |
Q26753099 | Arrhythmogenic cardiomyopathy |
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Q38268280 | Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy |
Q37493092 | Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC). |
Q45875036 | Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications |
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Q47913364 | Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion. |
Q91733059 | Rare non-coding Desmoglein-2 variant contributes to Arrhythmogenic right ventricular cardiomyopathy |
Q57083780 | Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications |
Q33812341 | Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy |
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