Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.R116P
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PNPO

NM_018129.4:p.R116P

Associated Papers

Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.

Lugli L et al.

Journal of Child Neurology, 2019

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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."