Varaico: Literature-Extracted Genetic Variants

Gene:OGDH
Variant:p.E229*
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OGDH

NM_002541.4:p.E229*

Associated Papers

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.

Sprecher U et al.

Molecular Genetics and Metabolism Reports, 2025

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.

Wongkittichote P et al.

Jimd Reports, 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."