Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R459G
Back to variants list

G6PD

NM_001360016.2:p.R459G

Associated Papers

Controversies in our understanding of extreme hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient neonates.

Kaplan M et al.

Pediatric Research, 2025

Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.

Lee HY et al.

Frontiers in Pediatrics, 2022

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.

Wang X et al.

Frontiers in Genetics, 2021

A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity.

Bahr TM et al.

Neonatology, 2020

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."