Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.V1777M
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ANK2

NM_001148.6:p.V1777M

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

Identification and characterization of two ankyrin-B isoforms in mammalian heart.

Wu HC et al.

Cardiovascular Research, 2015

Cardiac ankyrins in health and disease.

Hashemi SM et al.

Journal of Molecular and Cellular Cardiology, 2009

Obscurin targets ankyrin-B and protein phosphatase 2A to the cardiac M-line.

Cunha SR et al.

The Journal of Biological Chemistry, 2008

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

Ankyrin protein networks in membrane formation and stabilization.

Cunha SR et al.

Journal of Cellular and Molecular Medicine, 0

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