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In erythrocytes, the isoenzyme (e-GST) mainly present is GSTP1-1, which is overexpressed in humans in case of increased blood toxicity, as it occurs in nephrophatic patients or in healthy subjects living in polluted areas

The pathogenic variants in ZBTB24, CDCA7, and HELLS disrupt DNA methylation maintenance unrelated to replication, leading to low methylation in specific regions that rely on CDCA7/HELLS complexes for chromatin remodeling (79)

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A diagnosis of ASD is based on behavioral criteria requiring extensive neuropsychological evaluation, which assesses cognitive, developmental, and language abilities, as well as adaptive behaviors or life skills