Image 1_Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms.tif
Background<p>The CHD2 gene is one of the most common causative genes of developmental and epileptic encephalopathy (DEE). With the advent of high-throughput sequencing, identifying CHD2 variants has increased, necessitating evaluation of the gene-specific performance of widely used tools, as g...
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2025
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