Varaico: Literature-Extracted Genetic Variants

Gene:MED23
Variant:p.E646G
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MED23

NM_004830.4:p.E646G

Associated Papers

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Fazio A et al.

Genes, 2025

Mediator MED23 controls oligodendrogenesis and myelination by modulating Sp1/P300-directed gene programs.

Zhang S et al.

Cell Discovery, 2024

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Lionel AC et al.

American Journal of Medical Genetics. Part A, 2016

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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."