Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S1112fs
Back to variants list

KCNH2

NM_000238.4:p.S1112fs

Associated Papers

Unraveling Complexities in Genetically Elusive Long QT Syndrome.

Asatryan B et al.

Circulation. Arrhythmia and Electrophysiology, 2024

Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant.

Tobert KE et al.

Heart Rhythm, 2022

Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Song Y et al.

Frontiers in Cardiovascular Medicine, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."