Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.M159_E160Splc
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KCNQ1

NM_000218.3:p.M159_E160Splc

Associated Papers

Long QT syndrome in children and adolescents: risk factors and outcomes in a large German cohort.

Lippert L et al.

European Heart Journal, 2025

Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development.

Liu Z et al.

Seminars in Perinatology, 2023

Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.

Frisso G et al.

International Journal of Molecular Sciences, 2016

27834932 (PubMed )
Supplement: ijms-17-01883-s001.pdf

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.

Zhang M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

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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."