Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.R141H
Back to variants list

PNPO

NM_018129.4:p.R141H

Associated Papers

Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.

Garcia-Uzquiano R et al.

Epilepsia Open, 2024

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Alghamdi M et al.

Clinical Genetics, 2021

[Severe fetal anemia and neonatal epileptic encephalopathy caused by a novel PNPO mutation].

Lloreda-Garcia JM et al.

Revista De Neurologia, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."