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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)

Kern et al., 2014)

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

Cyanocobalamin is a synthetic form used in many supplements but must be converted in the body to methylcobalamin to be active

Generally, AOD-9604 is quite well tolerated and has minimal side effects