Varaico: Literature-Extracted Genetic Variants

Gene:PUS3
Variant:p.T208fs
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PUS3

NM_031307.4:p.T208fs

Associated Papers

The importance of pseudouridylation: human disorders related to the fifth nucleoside.

Keszthelyi TM et al.

Biologia Futura, 2023

Compound heterozygous mutations in PUS3 gene identified in a Chinese infant with severe epileptic encephalopathy and multiple malformations.

Fang H et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

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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."