Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.S332F
Back to variants list

G6PD

NM_001360016.2:p.S332F

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

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

Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.

Eandi Eberle S et al.

Archivos Argentinos De Pediatria, 2019

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

Gómez-Manzo S et al.

International Journal of Molecular Sciences, 2016

Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients.

Chaves A et al.

Clinical Biochemistry, 2016

[Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase].

Mansini AP et al.

Medicina, 2015

[Deficiency of glucose-6-phosphate dehydrogenase in a family].

Gónzalez-Quiroga G et al.

Archivos De Investigacion Medica, 0

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."