Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.L83fs
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PNPO

NM_018129.4:p.L83fs

Associated Papers

Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.

Barile A et al.

International Journal of Molecular Sciences, 2021

Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

Hatch J et al.

Jimd Reports, 2016

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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."