Varaico: Literature-Extracted Genetic Variants

Gene:UPF3A
Variant:p.R255K
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UPF3A

NM_023011.4: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

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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."