Varaico: Literature-Extracted Genetic Variants

Gene:PDP1
Variant:p.S205S
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PDP1

NM_018444.4:p.S205S

Associated Papers

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Chun K et al.

American Journal of Human Genetics, 1995

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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."