Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.T305S
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KCNJ2

NM_000891.3:p.T305S

Associated Papers

The network of cardiac KIR2.1: its function, cellular regulation, electrical signaling, diseases and new drug avenues.

Li E et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2024

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.

Le Tanno P et al.

Frontiers in Genetics, 2021

KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia.

Kalscheur MM et al.

Heart Rhythm, 2014

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.

Limberg MM et al.

Basic Research in Cardiology, 2013

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies.

Hsiao PY et al.

The Application of Clinical Genetics, 2013

Andersen-Tawil syndrome associated with aborted sudden cardiac death: atrial pacing was effective for ventricular arrhythmias.

Kuramoto Y et al.

The American Journal of the Medical Sciences, 2012

Phenotype variability in patients carrying KCNJ2 mutations.

Kimura H et al.

Circulation. Cardiovascular Genetics, 2012

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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."