Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.S93_L97del0
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PNPO

NM_018129.4:p.S93_L97del0

Associated Papers

Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox.

Mohanlal S et al.

Epilepsy & Behavior Reports, 2020

Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.

Accorsi P et al.

Clinical Neurology and Neurosurgery, 2017

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Plecko B et al.

Neurology, 2014

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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."