Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.G147delFs
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OPA3

NM_025136.4:p.G147delFs

Associated Papers

Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.

DiFalco CR et al.

Molecular Genetics and Metabolism, 2025

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
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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."