Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.R263G
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PC

NM_001040716.2:p.R263G

Associated Papers

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

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.

Fujii T et al.

Pediatric Neurology, 1996

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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."