Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R257L
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G6PD

NM_001360016.2:p.R257L

Associated Papers

Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.

Tacoli C et al.

Scientific Reports, 2025

41423656 (PubMed )
Supplement: 41598_2025_31822_MOESM3_ESM.xlsx › Sheet1

Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.

Tacoli C et al.

Biorxiv : the Preprint Server for Biology, 2025

40666837 (PubMed )
Supplement: media-2.xlsx › Sheet1

An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population.

Hernández-Ochoa B et al.

International Journal of Molecular Sciences, 2023

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

G6PD deficiency in Latin America: systematic review on prevalence and variants.

Monteiro WM et al.

Memorias Do Instituto Oswaldo Cruz, 2014

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

Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants.

Vaca G et al.

Blood Cells, Molecules & Diseases, 0

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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."