Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.L382L
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KCNJ2

NM_000891.3:p.L382L

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Leong IUS et al.

Medical Sciences (basel, Switzerland), 2017

29099038 (PubMed )
Supplement: medsci-05-00022-s001.zip › Supplementary_data_1.pdf

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

Potassium channel gene mutations rarely cause atrial fibrillation.

Ellinor PT et al.

Bmc Medical Genetics, 2006

Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.

Fodstad H et al.

Journal of Molecular and Cellular Cardiology, 2004

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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."