Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.Q40*
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UPF3B

NM_080632.3:p.Q40*

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

Functional roles of human Up-frameshift suppressor 3 (UPF3) proteins: From nonsense-mediated mRNA decay to neurodevelopmental disorders.

Deka B et al.

Biochimie, 2021

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).

Tejada MI et al.

Frontiers in Genetics, 2019

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