Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R302fs
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PDHA1

NM_000284.4:p.R302fs

Associated Papers

Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit.

Hansen LL et al.

Human Molecular Genetics, 1993

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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."