Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.E262_I264del3
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OGA

NM_012215.5:p.E262_I264del3

Associated Papers

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases.

Yoldaş Çelik M et al.

Molecular Genetics and Metabolism Reports, 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."