Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.W65L
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PNPO

NM_018129.4:p.W65L

Associated Papers

Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.

Chi W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Wilson MP et al.

Analytical Chemistry, 2017

28782931 (PubMed )
Supplement: ac7b01358_si_001.pdf
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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."