Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.P1132A
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KCNH2

NM_000238.4:p.P1132A

Associated Papers

High-throughput screens identify genotype-specific therapeutics for channelopathies.

Egly CL et al.

Jci Insight, 2025

Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

Bui QM et al.

Future Cardiology, 2025

40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.

Glazer AM et al.

Circulation, 2022

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV et al.

Genetic Testing and Molecular Biomarkers, 2013

23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc
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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."