Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.L295M
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UPF3B

NM_080632.3:p.L295M

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

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

Zhang Y et al.

Plos One, 2015

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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."