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Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.

Pacing and clinical electrophysiology : PACE - 1 Mar 2025

Liu Hongyu, Jiang Zhenhong, Shen Yang, Shao Ying, Su Yuhao, Wang Daowu, Brugada Ramon, Hong Kui

Abstract excerpt

AIMS: The aim of this study was to investigate the topological distribution of single nucleotide variants (SNVs) in the KCNH2 gene from patients with type 2 long QT syndrome (LQT2) and to explore the genotype-phenotype relationships. METHODS: Information on KCNH2 variants in LQT2 patients was retrospectively obtained from the HGMD, ClinVar, and PubMed databases through October 2022. Pathogenicity of SNV was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39913104
DOI: 10.1111/pace.15145

Genes

KCNH2
SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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