Varaico: Literature-Extracted Genetic Variants

Gene:MEF2C
Variant:p.R17_Q18delFs
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MEF2C

NM_002397.5:p.R17_Q18delFs

Associated Papers

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

Ambrose A et al.

Orphanet Journal of Rare Diseases, 2024

39533303 (PubMed )
Supplement: 13023_2024_3437_MOESM9_ESM.xlsx › Nuclear

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Fehlings DL et al.

Nature Genetics, 2024

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."