Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.V291M
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G6PD

NM_001360016.2:p.V291M

Associated Papers

Development and implementation of droplet digital PCR assays for accurate quantification of Plasmodium vivax parasitemia and G6PD viangchan genotyping.

Srisutham S et al.

Acta Tropica, 2026

Invasion and development of Plasmodium falciparum in erythroblasts of humans carrying G6PD viangchan.

Boonpeng K et al.

Acta Tropica, 2026

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

Lack of association between G6PD variants and Parkinson disease.

Chifamba LV et al.

Hgg Advances, 2026

41376170 (PubMed )
Supplement: mmc2.xlsx › S_table_3_rare

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

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

Genetic variation of human G6PD impacts Red Blood Cell transfusion efficacy.

Karafin MS et al.

Biorxiv : the Preprint Server for Biology, 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

Association of IgG4-related disease with human inborn errors of immunity.

Batani V et al.

Rheumatology (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

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

Cope HL et al.

Nature Medicine, 2025

40913169 (PubMed )
Supplement: 41591_2025_3945_MOESM3_ESM.xlsx › Sheet1

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

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

Precise correction of G6PD Viangchan mutation in iPSCs by prime editing strategy.

Netsawang C et al.

Scientific Reports, 2025

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.

Lü Y et al.

Prenatal Diagnosis, 2025

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

Biochemical screening of glucose-6-phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.

Raynor A et al.

British Journal of Haematology, 2025

39761661 (PubMed )
Supplement: supplement_1.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_S3

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

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

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

Jakhan J et al.

Acta Parasitologica, 2024

Serum microRNAs as new biomarkers for detecting subclinical hemolysis in the nonacute phase of G6PD deficiency.

Boonpeng K et al.

Scientific Reports, 2024

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

Võ TC et al.

Parasitology International, 2024

Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.

To-Mai XH et al.

Scientific Reports, 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

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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."