Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.L1045F
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KCNH2

NM_000238.4:p.L1045F

Associated Papers

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

Liu H et al.

Pacing and Clinical Electrophysiology : Pace, 2025

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.

Thomson KL et al.

Hgg Advances, 2024

38219013 (PubMed )
Supplement: mmc2.xlsx › Table_S1_Variant_Controls

Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.

Kozek K et al.

Circulation. Genomic and Precision Medicine, 2021

Efficiency of whole-exome sequencing in old world and new world primates using human capture reagents.

Chan J et al.

Journal of Medical Primatology, 2021

Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy.

Tarnovskaya S et al.

Amino Acids, 2017

Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases.

Ildarova R et al.

Journal of Electrocardiology, 0

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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."