Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R459H
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G6PD

NM_001360016.2:p.R459H

Associated Papers

Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience.

Zhang Z et al.

Annals of Hematology, 2024

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.

Zhou J et al.

Frontiers in Genetics, 2024

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

Wang X et al.

Frontiers in Genetics, 2021

34659341 (PubMed )
Supplement: DataSheet1.doc

Evaluation of the Diagnostic Accuracy of the CareStart™ Glucose-6-Phosphate Dehydrogenase Deficiency Rapid Diagnostic Test among Chinese Newborns.

Yu F et al.

Journal of Tropical Pediatrics, 2020

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD

Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies.

Robinson KM et al.

The Pharmacogenomics Journal, 2019

Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates.

Ainoon O et al.

The Malaysian Journal of Pathology, 2004

Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese.

Ainoon O et al.

Human Mutation, 1999

Rapid detection of common Chinese glucose-6-phosphate dehydrogenase (G6PD) mutations by denaturing gradient gel electrophoresis (DGGE).

Lam VM et al.

Genetic Analysis : Biomolecular Engineering, 1996

Nucleotide 1376 G-->T mutation in G6PD-deficient Chinese in Malaysia.

Ainoon O et al.

The Malaysian Journal of Pathology, 1995

Rapid detection of six common Chinese G6PD mutations by MALDI-TOF MS.

Zhao F et al.

Blood Cells, Molecules & Diseases, 0

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