Varaico: Literature-Extracted Genetic Variants

Gene:PDHB
Variant:p.G302E
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PDHB

NM_000925.4:p.G302E

Associated Papers

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

Pavlu-Pereira H et al.

Orphanet Journal of Rare Diseases, 2020

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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."