Varaico: Literature-Extracted Genetic Variants

Gene:PUS3
Variant:p.A212G
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PUS3

NM_031307.4:p.A212G

Associated Papers

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

Lin TY et al.

Molecular Cell, 2024

38996458 (PubMed )
Supplement: mmc4.pdf

Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.

Nøstvik M et al.

Clinical Genetics, 2021

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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."