Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.R72_V79del0
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UBA5

NM_024818.6:p.R72_V79del0

Associated Papers

Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities.

Serrano RJ et al.

Brain Communications, 2023

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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."