Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R561G
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KCNQ1

NM_000218.3:p.R561G

Associated Papers

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.

Harvey ML et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445606 (PubMed )
Supplement: media-1.docx

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Huttunen H et al.

Frontiers in Endocrinology, 2018

Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.

Koponen M et al.

Circulation. Arrhythmia and Electrophysiology, 2015

26063740 (PubMed )
Supplement: 002654_supplemental_material.pdf

Heritability in genetic heart disease: the role of genetic background.

Jansweijer JA et al.

Open Heart, 0

31245010 (PubMed )
Supplement: openhrt-2018-000929supp001.pdf
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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."