Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.C303*
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UBA5

NM_024818.6:p.C303*

Associated Papers

Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.

Chen H et al.

Science Translational Medicine, 2025

Patient derived model of UBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies.

Chen H et al.

Biorxiv : the Preprint Server for Biology, 2024

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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."