Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.G250G
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PNPO

NM_018129.4:p.G250G

Associated Papers

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update.

Pena IA et al.

Expert Review of Endocrinology & Metabolism, 2017

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Mills PB et al.

Brain : a Journal of Neurology, 2010

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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."