Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A83fs
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KCNH2

NM_000238.4:p.A83fs

Associated Papers

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Christiansen M et al.

Bmc Medical Genetics, 2014

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."