Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.L1503V
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ANK2

NM_001148.6:p.L1503V

Associated Papers

Ankyrin-2 genetic variants: A case of Ankyrin-B syndrome.

Song J et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2022

Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.

York NS et al.

Frontiers in Cardiovascular Medicine, 2022

Human ankyrins and their contribution to disease biology: An update.

Sharma N et al.

Journal of Biosciences, 2020

Structure of the ZU5-ZU5-UPA-DD tandem of ankyrin-B reveals interaction surfaces necessary for ankyrin function.

Wang C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

Cardiac ankyrins in health and disease.

Hashemi SM et al.

Journal of Molecular and Cellular Cardiology, 2009

Cardiac ankyrins: Essential components for development and maintenance of excitable membrane domains in heart.

Cunha SR et al.

Cardiovascular Research, 2006

Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects.

Sherman J et al.

Heart Rhythm, 2005

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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."