Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.R903G
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CHD2

NM_001271.4:p.R903G

Associated Papers

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

LaFlamme CW et al.

Nature Communications, 2024

39107278 (PubMed )
Supplement: 41467_2024_50159_MOESM5_ESM.xlsx › SupplementaryData2B

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Clara-Hwang A et al.

Neurology. Genetics, 2024

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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."