Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.R374C
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UPF3B

NM_080632.3:p.R374C

Associated Papers

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Laumonnier F et al.

Molecular Psychiatry, 2010

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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."