Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R66Q
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CLCN2

NM_004366.6:p.R66Q

Associated Papers

Adult-Onset Genetic Leukoencephalopathies With Movement Disorders.

Fu MH et al.

Journal of Movement Disorders, 2023

Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification.

Perez-Rivas LG et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

Fernandes-Rosa FL et al.

Nature Genetics, 2018

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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."