Varaico: Literature-Extracted Genetic Variants

Gene:MEF2C
Variant:p.R15P
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MEF2C

NM_002397.5:p.R15P

Associated Papers

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

Li X et al.

Seizure, 2026

Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.

Liu L et al.

Molecular Genetics & Genomic Medicine, 2021

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

Wan L et al.

Frontiers in Pediatrics, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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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."