Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ8
Variant:p.E332del1
Back to variants list

KCNJ8

NM_004982.4:p.E332del1

Associated Papers

ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.

Tinker A et al.

Comprehensive Physiology, 2018

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

Tester DJ et al.

Journal of the American College of Cardiology, 2018

Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection.

Nichols CG

Cardiac Electrophysiology Clinics, 2016

Role of ATP-sensitive K+ channels in cardiac arrhythmias.

Nakaya H

Journal of Cardiovascular Pharmacology and Therapeutics, 2014

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA et al.

European Journal of Medical Genetics, 2013

K(ATP) channel action in vascular tone regulation: from genetics to diseases.

Shi WW et al.

Sheng Li Xue Bao : [acta Physiologica Sinica], 2012

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac ion channel mutations in the sudden infant death syndrome.

Klaver EC et al.

International Journal of Cardiology, 2011

Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome.

Tester DJ et al.

Circulation. Cardiovascular Genetics, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."