Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R73fs
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KCNH2

NM_000238.4:p.R73fs

Associated Papers

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.

Johnson JN et al.

Neurology, 2009

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ et al.

Heart Rhythm, 2005

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."