Varaico: Literature-Extracted Genetic Variants

Gene:MEF2C
Variant:p.E86*
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MEF2C

NM_002397.5:p.E86*

Associated Papers

Whole-brain in vivo base editing reverses behavioral changes in Mef2c-mutant mice.

Li WK et al.

Nature Neuroscience, 2024

Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations.

Wan L et al.

Frontiers in Pediatrics, 2021

Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.

Wang J et al.

Bmc Medical Genetics, 2018

MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy.

Yuan F et al.

Clinical Chemistry and Laboratory Medicine, 2018

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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."