Varaico: Literature-Extracted Genetic Variants

Gene:MEF2C
Variant:p.M1V
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MEF2C

NM_002397.5:p.M1V

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

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Sajan SA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Fatal encephalopathy and congenital heart defects with MEF2C-related disorder.

Asagai Y et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."