Varaico: Literature-Extracted Genetic Variants

Gene:DLD
Variant:p.R263G
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DLD

NM_000108.5: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

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.

Dahl HH et al.

Human Mutation, 1992

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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."