Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.R302C
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DHTKD1

NM_018706.7:p.R302C

Associated Papers

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Lissens W et al.

Human Mutation, 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."