Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH.
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic
right ventricular cardiomyopathy. J Med Genet. 2010 Nov;47(11):736-44. doi:
10.1136/jmg.2010.077891. Epub 2010 Sep 23. PubMed PMID: 20864495.
huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr12:33030802
GS20502 - var-GS20502-1100-36-ASM
het C @ chr12:32922069