Varaico: Literature-Extracted Genetic Variants

Gene:UBA2
Variant:p.G18_V20insFs
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UBA2

NM_005499.3:p.G18_V20insFs

Associated Papers

Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.

Liaqat K et al.

Genetic Testing and Molecular Biomarkers, 2025

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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."