Varaico: Literature-Extracted Genetic Variants

Gene:PUS3
Variant:p.D118A
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PUS3

NM_031307.4:p.D118A

Associated Papers

The molecular basis of tRNA selectivity by human pseudouridine synthase 3.

Lin TY et al.

Molecular Cell, 2024

Destabilization of mutated human PUS3 protein causes intellectual disability.

Lin TY et al.

Human Mutation, 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."