Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.R255K
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UPF3B

NM_080632.3:p.R255K

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

Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation.

Bufton JC et al.

Nucleic Acids Research, 2022

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

A nonconservative amino acid change in the UPF3B gene in a patient with schizophrenia.

Szyszka P et al.

Psychiatric Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."