Varaico: Literature-Extracted Genetic Variants

Gene:PDP1
Variant:p.E175K
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PDP1

NM_018444.4:p.E175K

Associated Papers

Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction.

Adant I et al.

Molecular Metabolism, 2022

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Lissens W et al.

Human Mutation, 2000

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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."