Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P5-predicted_haploinsuff.
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Romano F et al.
American Journal of Medical Genetics. Part A, 2024
Functional roles of human Up-frameshift suppressor 3 (UPF3) proteins: From nonsense-mediated mRNA decay to neurodevelopmental disorders.
Deka B et al.
Biochimie, 2021
Full UPF3B function is critical for neuronal differentiation of neural stem cells.
Alrahbeni T et al.
Molecular Brain, 2015
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
Laumonnier F et al.
Molecular Psychiatry, 2010
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