Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.Q174*
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PNPO

NM_018129.4:p.Q174*

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

A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.

Ruiz A et al.

Molecular Genetics and Metabolism, 2008

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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."