Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.V630G
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KCNH2

NM_000238.4:p.V630G

Associated Papers

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode.

Chen P et al.

Frontiers in Genetics, 2024

Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

Lenarduzzi S et al.

Molecular Genetics & Genomic Medicine, 2023

Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.

Caiffa T et al.

Frontiers in Pediatrics, 2022

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