Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.I313N
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KCNQ1

NM_000218.3:p.I313N

Associated Papers

9-Year Follow-Up of a Pediatric LQTS Patient With a Subcutaneous ICD: Considerations for ILR Monitoring.

Nakamura Y et al.

Jacc. Case Reports, 2025

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome.

Ikrar T et al.

Journal of Cardiovascular Electrophysiology, 2008

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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."