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Paper Title

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

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medRxiv

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Paper Publication Year

2023

Bio Mention

850K methylation array, CG-rich repeat, CHD2 Episignature, CpG, DEE, DEE genes, DEEs, DMRs, DNA, Developmental and Epileptic Encephalopathies, bisulfite, blood samples, developmental and epileptic encephalopathies, differentially methylated regions, episignature, monogenic, monogenic disorders, neurodevelopmental disorders, pathogenic sequence variants, rare diseases, single loci

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