Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.G208S
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SGCE

NM_003919.3:p.G208S

Associated Papers

Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models.

Li Z et al.

Cells, 2024

Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.

Sperandeo A et al.

Brain : a Journal of Neurology, 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."