Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.E120*
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PNPO

NM_018129.4:p.E120*

Associated Papers

Late-onset drug-resistant epilepsy in pyridoxamine 5'-phosphate oxidase deficiency: a case report.

Naghavi E et al.

Journal of Medical Case Reports, 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."