Varaico: Literature-Extracted Genetic Variants

Gene:DLAT
Variant:p.G249R
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DLAT

NM_001931.5:p.G249R

Associated Papers

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ferriero R et al.

Annals of Clinical and Translational Neurology, 2014

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A et al.

Molecular Genetics and Metabolism, 2011

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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."