Article
Common human ANK2 variant confers in vivo arrhythmia phenotypes.
Heart rhythm - 1 Sept 2016
Musa Hassan, Murphy Nathaniel P, Curran Jerry, Higgins John D, Webb Tyler R, Makara Michael A, Wright Patrick, Lancione Peter J, Lubbers Ellen R, Healy Jane A, Smith Sakima A, Bennett Vann, Hund Thomas J, Kline Crystal F, Mohler Peter J
Abstract excerpt
BACKGROUND: Human ANK2 (ankyrin-B) loss-of-function variants are directly linked with arrhythmia phenotypes. However, in atypical non-ion channel arrhythmia genes such as ANK2 that lack the same degree of robust structure/function and clinical data, it may be more difficult to assign variant disease risk based simply on variant location, minor allele frequency, and/or predictive structural algorithms. The human...
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