Associated Papers
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Romano F et al.
American Journal of Medical Genetics. Part A, 2024
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
Functional roles of human Up-frameshift suppressor 3 (UPF3) proteins: From nonsense-mediated mRNA decay to neurodevelopmental disorders.
Deka B et al.
Biochimie, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
Full UPF3B function is critical for neuronal differentiation of neural stem cells.
Alrahbeni T et al.
Molecular Brain, 2015
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.
Xu X et al.
Clinical Genetics, 2013
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Tarpey PS et al.
Nature Genetics, 2007
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