Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.G250delFs
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PNPO

NM_018129.4:p.G250delFs

Associated Papers

Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.

Jiao X et al.

Human Molecular Genetics, 2023

A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5'-Phosphate Oxidase, and PLPBP Deficiency.

Jiao X et al.

Frontiers in Genetics, 2022

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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."