Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R257R
Back to variants list

G6PD

NM_001360016.2:p.R257R

Associated Papers

Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.

Geck RC et al.

American Journal of Human Genetics, 2023

36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants

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

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.

Gómez-Manzo S et al.

International Journal of Molecular Sciences, 2016

Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia.

Rigano P et al.

British Journal of Haematology, 2010

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."