Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R68H
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CLCN2

NM_004366.6:p.R68H

Associated Papers

Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations.

Maeda LK et al.

Archives of Endocrinology and Metabolism, 2025

Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.

Ma T et al.

Nature Communications, 2023

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.

Chahal CAA et al.

Journal of the American Heart Association, 2021

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Fernández-Marmiesse A et al.

Frontiers in Neuroscience, 2019

Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.

Scheper GC et al.

Genetic Testing and Molecular Biomarkers, 2010

Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.

Paul J et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2007

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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."