Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.H32R
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G6PD

NM_001360016.2:p.H32R

Associated Papers

Association between G6PD gene variants and adverse pregnancy outcomes.

Guo D et al.

Bmc Pregnancy and Childbirth, 2026

Ethnic Variation in G6PD Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning.

Yang J et al.

Clinical Genetics, 2026

Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.

Yin Y et al.

Human Genomics, 2026

G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a population-based genetic analysis.

Peng Q et al.

Frontiers in Genetics, 2026

Screening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.

Chen ZX et al.

Transfusion Medicine (oxford, England), 2025

Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.

Wang Z et al.

Annals of Hematology, 2025

[Analysis of Gene Mutations Distribution and Enzyme Activity of G6PD Deficiency in Newborns in Guilin Region].

Yang DM et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2025

Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets.

Li Z et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Rapid and reliable detection of G6PD mutations using recombinase polymerase amplification coupled with lateral flow strip.

Jacob BAC et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand.

Pengsuk N et al.

Pharmacology Research & Perspectives, 2025

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Lam WKJ et al.

The Lancet Regional Health. Western Pacific, 2025

39944418 (PubMed )
Supplement: mmc1.docx

Characteristics of glucose-6-phosphate dehydrogenase mutations in newborns with deficiency from 2021 to 2022 in the Heze area of China.

Zhang X et al.

Frontiers in Immunology, 2025

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S4

Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand.

Chamnanchanunt S et al.

Plos One, 2025

G6PD deficiency in Malaysia's Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study.

Zailani MAH et al.

Plos One, 2025

Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.

Huang Z et al.

Annals of Laboratory Medicine, 2024

Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.

Zhang H et al.

Heliyon, 2024

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Screening, genotyping and haematological analysis of glucose-6-phosphate dehydrogenase deficiency in the blood donors of Wuxi City, China.

Jin J et al.

Vox Sanguinis, 2024

Hemolysis attributed to high dose vitamin C: Two case reports.

Wang SW et al.

World Journal of Clinical Cases, 2024

Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.

Boonyuen U et al.

Malaria Journal, 2024

Multi-omics analyses of G6PD deficiency variants in Chinese population.

Ji H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024

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

G6PD gene detection in neonatal hyperbilirubinemia and analysis of related risk factors.

Huang T et al.

Technology and Health Care : Official Journal of the European Society for Engineering and Medicine, 2024

Evaluating the relationship between Clinical G6PD enzyme activity and gene variants.

Zhou X et al.

Peerj, 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

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

Tan M et al.

Plos One, 2024

Etiology analysis for term newborns with severe hyperbilirubinemia in eastern Guangdong of China.

Xu JX et al.

World Journal of Clinical Cases, 2023

Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China.

Li Z et al.

Human Genomics, 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

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.

Manco L et al.

Acta Medica Portuguesa, 2023

Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.

Chen S et al.

Human Heredity, 2023

Etiology analysis and G6PD deficiency for term infants with jaundice in Yangjiang of western Guangdong.

Yang YK et al.

Frontiers in Pediatrics, 2023

Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females.

Chamchoy K et al.

Plos One, 2023

Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.

Xuan-Rong Koh D et al.

Plos One, 2023

Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province.

Liang HF et al.

Frontiers in Genetics, 2023

Glucose-6-phosphate dehydrogenase deficiency screening and gene analysis in blood donors of Guangdong province.

Liang HF et al.

Hematology (amsterdam, Netherlands), 2022

Cut-off values for diagnosis of G6PD deficiency by flow cytometry in Thai population.

Thedsawad A et al.

Annals of Hematology, 2022

Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis.

Pfeffer DA et al.

Pathogens (basel, Switzerland), 2022

Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.

Ren ZM et al.

Hemoglobin, 2022

Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China.

Xu A et al.

Diabetology & Metabolic Syndrome, 2022

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.

Yang Y et al.

The Application of Clinical Genetics, 2022

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

Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam.

Ngo TT et al.

Anemia, 2022

Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China.

Xia Z et al.

Frontiers in Genetics, 2022

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.

Shen S et al.

Frontiers in Genetics, 2022

Prevalence of G6PD deficiency and G6PD variants amongst the southern Thai population.

Nuinoon M et al.

Peerj, 2022

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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."