Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.R225_K226delFs
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UPF3B

NM_080632.3:p.R225_K226delFs

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

Full UPF3B function is critical for neuronal differentiation of neural stem cells.

Alrahbeni T et al.

Molecular Brain, 2015

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS et al.

Nature Genetics, 2009

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Tarpey PS et al.

Nature Genetics, 2007

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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."