Varaico: Literature-Extracted Genetic Variants

Gene:MEF2C
Variant:p.E86E
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MEF2C

NM_002397.5:p.E86E

Associated Papers

Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.

Li X et al.

Seizure, 2026

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 haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

Rocha H et al.

European Journal of Medical Genetics, 2016

Clinical whole exome sequencing in child neurology practice.

Srivastava S et al.

Annals of Neurology, 2014

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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."