Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.R161H
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PNPO

NM_018129.4:p.R161H

Associated Papers

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.

Xiao D et al.

Frontiers in Genetics, 2024

39076170 (PubMed )
Supplement: Table1.DOCX

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

Jiao X et al.

Human Molecular Genetics, 2023

Complexities of pyridoxine response in PNPO deficiency.

Farmania R et al.

Epilepsy & Behavior Reports, 2021

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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."