Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R692Q
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KCNH2

NM_172057.3:p.R692Q

Associated Papers

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

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Chen J et al.

Orphanet Journal of Rare Diseases, 2022

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 - Modified Schwartz Score.

Ozawa J et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2018

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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."