Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.Q81P
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KCNH2

NM_000238.4:p.Q81P

Associated Papers

Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis.

Martínez-Barrios E et al.

Biomedicines, 2024

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 impact of rare variants associated with inherited channelopathies: a 5-year update.

Sarquella-Brugada G et al.

Human Genetics, 2022

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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."