Varaico: Literature-Extracted Genetic Variants

Gene:OGDH
Variant:p.D77H
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OGDH

NM_002541.4:p.D77H

Associated Papers

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.

Haham Zarbib Y et al.

Antioxidants (basel, Switzerland), 2025

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.

Staretz-Chacham O et al.

Nutrients, 2021

34684524 (PubMed )
Supplement: nutrients-13-03523-s001.zip › nutrients-1373313-supplementary.pdf

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

Quinonez SC et al.

Pediatric Neurology, 2013

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

Shaag A et al.

American Journal of Medical Genetics, 1999

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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."