Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R73*
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PDHA1

NM_000284.4:p.R73*

Associated Papers

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.

Verma A et al.

Molecular Genetics & Genomic Medicine, 2024

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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."