Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.G163S
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G6PD

NM_001360016.2:p.G163S

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

Resolving haplotypes of the glucose-6-phosphate dehydrogenase gene using long-range polymerase chain reaction and Oxford Nanopore sequencing.

Chamchoy K et al.

Biology Methods & Protocols, 2026

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

Tacoli C et al.

Scientific Reports, 2025

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

Glucose 6-phosphate dehydrogenase deficiency and Southeast Asian-specific mutations lower HbA1c levels in a Thai population: implications for diabetes diagnosis.

Mungkalasut P et al.

Diabetologia, 2025

Glucose-6-phosphate dehydrogenase variants in Kachin, Myanmar.

Moon Z et al.

Parasites, Hosts and Diseases, 2025

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

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

Wang Z et al.

Annals of Hematology, 2025

Human genetic variations conferring resistance to malaria.

Zhang X et al.

Journal of Translational Medicine, 2025

Opportunities and Challenges of Population Pharmacogenomics.

Zhou Y et al.

Annals of Human Genetics, 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 detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.

Tacoli C et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Improved genetic screening with zygosity detection through multiplex high-resolution melting curve analysis and biochemical characterisation for G6PD deficiency.

Boonyuen U et al.

Tropical Medicine & International Health : Tm & Ih, 2025

Within-host modeling of primaquine-induced hemolysis in hemizygote glucose-6-phosphate dehydrogenase deficient healthy volunteers.

Watson JA et al.

Antimicrobial Agents and Chemotherapy, 2025

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.

Akter H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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

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

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

Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients.

Jakhan J et al.

Acta Parasitologica, 2024

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Gia Lai Province, Vietnam.

Võ TC et al.

Parasitology International, 2024

Primaquine in glucose-6-phosphate dehydrogenase deficiency: an adaptive pharmacometric assessment of ascending dose regimens in healthy volunteers.

Pukrittayakamee S et al.

Elife, 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

Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum.

Li H et al.

Journal of Medical Biochemistry, 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

Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Cao Z et al.

Molecular Genetics & Genomic Medicine, 2024

38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1

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

Single-Drop Blood Detection of Common G6PD Mutations in Thailand Based on Allele-Specific Recombinase Polymerase Amplification with CRISPR-Cas12a.

Mungkalasut P et al.

Acs Omega, 2023

Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification.

Nannelli C et al.

British Journal of Haematology, 2023

Hemoglobinopathies, merozoite surface protein-2 gene polymorphisms, and acquisition of Epstein Barr virus among infants in Western Kenya.

Olewe PK et al.

Bmc Cancer, 2023

Prevalence of G6PD deficiency and diagnostic accuracy of a G6PD point-of-care test among a population at risk of malaria in Myanmar.

Aung TH et al.

Malaria Journal, 2023

Prevalence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in Chin State, Myanmar.

Aung JM et al.

Parasites, Hosts and Diseases, 2023

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