Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R82R
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KCNQ1

NM_000218.3:p.R82R

Associated Papers

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Biorxiv : the Preprint Server for Biology, 2023

Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?

Izumi G et al.

Pediatric Cardiology, 2016

Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome.

Raudenská M et al.

Physiological Research, 2008

[Mutational analysis of LQT genes in individuals with drug induced QT interval prolongation].

Novotný T et al.

Vnitrni Lekarstvi, 2006

[The role of ergometric testing in diagnosis of latent long QT syndrome].

Novotný T et al.

Vnitrni Lekarstvi, 2000

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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."