IndraLab

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KCNH2 activates type 2 Long QT syndrome. 1 / 1
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"Similarly, abnormal splicing of KCNH2, resulting from intronic branch point [XREF_BIBR] or 5 ' splice site [XREF_BIBR] mutations, impairs the functioning of the resulting HERG encoded I Kr channels, causing type 2 Long QT syndrome (LQT2)."