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GeneDx

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Open access Aug 2026

Estimating the contribution of coding mutations to autism

It is found that damaging de novo single-nucleotide variants and frameshift indels explain 3.4% (95% CI: 2.1% - 4.7%) of autism variance on the observed scale.

A. Nadig, J. Fu, F. Satterstrom et al. · medRxiv · 0 citations