Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.T514_V515delFs
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CLCN2

NM_004366.6:p.T514_V515delFs

Associated Papers

CLCN2-Related Leukoencephalopathy Presenting as Isolated Paroxysmal Non-Kinesigenic Dyskinesia: Clinical, Imaging, and Genetic Correlation.

Roy S et al.

Journal of Movement Disorders, 2025

CLCN2-Related Leukoencephalopathy in Two Unrelated Patients Due to Novel Variants.

Holla VV et al.

Movement Disorders Clinical Practice, 2023

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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."