Varaico: Literature-Extracted Genetic Variants

Gene:AUH
Variant:p.L279insFs
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AUH

NM_001698.3:p.L279insFs

Associated Papers

An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders.

Mainardi M et al.

Journal of Neurology, 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."