Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G1006fs
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KCNH2

NM_000238.4:p.G1006fs

Associated Papers

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing.

Kohansal E et al.

Bmc Medical Genomics, 2024

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Chen J et al.

Orphanet Journal of Rare Diseases, 2022

Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome.

De Zio R et al.

Journal of Cellular and Molecular Medicine, 2019

Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.

Nemec J et al.

Pacing and Clinical Electrophysiology : Pace, 2003

Catecholamine-induced T-wave lability in congenital long QT syndrome: a novel phenomenon associated with syncope and cardiac arrest.

Nemec J et al.

Mayo Clinic Proceedings, 2003

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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."