| 1 | ARVD8, DSP
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| Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy.
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| Campuzano O, Alcalde M, Berne P, Zorio E, Iglesias A, Navarro-Manchón J, Brugada J, Brugada R.
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| Eur J Med Genet 56(10):541-5. doi: 10.1016/j.ejmg.2013.08.001. Epub 2013 Aug 14.
2013
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| 2 | ARVD10, ARVD8, ARVD9, ARVDPPK, DSC2, DSG2, DSP, JUP, PKP
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| Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
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| Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH.
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| J Med Genet 47(11):736-44. Epub 2010 Sep 23.
2010
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| 3 | DSP, ARVD8
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| Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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| Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S, Nadvoretskiy VV, DeFreitas G, Carabello B, Brandon LI, Godsel LM, Green KJ, Saffitz JE, Li H, Danieli GA, Calkins H, Marcus F, Towbin JA.
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| Circ Res 99(6):646-55. Epub 2006 Aug 17. 2006
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| 4 | ARVD8, DSP
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| Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
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| Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA.
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| Am J Hum Genet 71(5):1200-6. Epub 2002 Oct 08. 2002
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