Varaico: Literature-Extracted Genetic Variants

Gene:DLD
Variant:p.I40fs
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DLD

NM_000108.5:p.I40fs

Associated Papers

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

Staretz-Chacham O et al.

Nutrients, 2021

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.

Carrozzo R et al.

Mitochondrion, 2014

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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."