A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.

Eur J Hum Genet · 2022 · PMC9090808 · PMID 35087184

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highly significantno p-value reported

Several highly significant DEGs are involved in various pathways, suggesting that multiple processes could play a role in disease pathogenesis.

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