Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.W100G
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SGCE

NM_003919.3:p.W100G

Associated Papers

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

Li Z et al.

Cells, 2024

Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.

Kutschenko A et al.

International Journal of Molecular Sciences, 2021

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

Grütz K et al.

Scientific Reports, 2017

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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."