Varaico: Literature-Extracted Genetic Variants

Gene:MEF2C
Variant:p.C39R
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MEF2C

NM_002397.5:p.C39R

Associated Papers

Identification of an episignature for the MEF2C-associated syndrome.

Silva A et al.

European Journal of Human Genetics : Ejhg, 2026

MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.

Harrington AJ et al.

Biological Psychiatry, 2020

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL et al.

Nature Genetics, 2013

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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."