Associated Papers
A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental Disorder.
Tümer Z et al.
Clinical Genetics, 2025
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model.
Nakato D et al.
European Journal of Medical Genetics, 2024
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
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