Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R1033W
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KCNH2

NM_000238.4:p.R1033W

Associated Papers

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

Farrugia A et al.

International Journal of Molecular Sciences, 2021

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Anderson CL et al.

Nature Communications, 2014

The genetics of pro-arrhythmic adverse drug reactions.

Petropoulou E et al.

British Journal of Clinical Pharmacology, 2014

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

Chang RK et al.

The Journal of Pediatrics, 2014

Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.

Ramirez AH et al.

The Pharmacogenomics Journal, 2013

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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."