Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.P605delFs
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KCNH2

NM_000238.4:p.P605delFs

Associated Papers

Congenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting "motor seizures": a case report and literature review.

Jin M et al.

Bmc Pediatrics, 2025

Long QT syndrome with potassium voltage-gated channel subfamily H member 2 gene mutation mimicking refractory epilepsy: case report.

Kang H et al.

Bmc Neurology, 2021

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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."