Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.G163S
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H6PD

NM_004285.4:p.G163S

Associated Papers

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

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

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

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

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

Jakhan J et al.

Acta Parasitologica, 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

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

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

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

Aung JM et al.

Parasites, Hosts and Diseases, 2023

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

Li Z et al.

Human Genomics, 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

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

Thedsawad A et al.

Annals of Hematology, 2022

Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency among Malaria Patients in Southern Thailand: 8 Years Retrospective Study.

Khammanee T et al.

The Korean Journal of Parasitology, 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 heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.

Shen S et al.

Frontiers in Genetics, 2022

Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.

Wei H et al.

Frontiers in Genetics, 2022

Combined effects of double mutations on catalytic activity and structural stability contribute to clinical manifestations of glucose-6-phosphate dehydrogenase deficiency.

Pakparnich P et al.

Scientific Reports, 2021

Distribution of G6PD deficiency genotypes among Southeast Asian populations.

Tantular IS et al.

Tropical Medicine and Health, 2021

Co-inheritance of G6PD deficiency and 211 G to a variation of UGT1A1 in neonates with hyperbilirubinemia in eastern Guangdong.

Xu JX et al.

Bmc Pediatrics, 2021

Molecular genotyping of G6PD mutations for neonates in Ningbo area.

Pan J et al.

Journal of Clinical Laboratory Analysis, 2021

Glucose-6-phosphate dehydrogenase mutations in malaria endemic area of Thailand by multiplexed high-resolution melting curve analysis.

Boonyuen U et al.

Malaria Journal, 2021

Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population.

Sanephonasa A et al.

Malaria Journal, 2021

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

Wang X et al.

Frontiers in Genetics, 2021

Prevalence of Glucose 6-Phosphate Dehydrogenase Variants in Malaria-Endemic Areas of South Central Timor, Eastern Indonesia.

Sulistyaningrum N et al.

The American Journal of Tropical Medicine and Hygiene, 2020

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.

Gao J et al.

Human Heredity, 2020

Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian.

Chen Y et al.

Medicine, 2018

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among malaria patients in Upper Myanmar.

Lee J et al.

Bmc Infectious Diseases, 2018

Glucose-6-phosphate dehydrogenase (G6PD)-deficient infants: Enzyme activity and gene variants as risk factors for phototherapy in the first week of life.

Wong FL et al.

Journal of Paediatrics and Child Health, 2017

Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria.

Plewes K et al.

Malaria Journal, 2017

A multiplex method for detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations.

Zhang L et al.

International Journal of Laboratory Hematology, 2015

Relationship among glucose-6-phosphate dehydrogenase (G-6-PD) activity, G-6-PD variants and reticulocytosis in neonates of northeast Thailand.

Kitcharoen S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.

Peng Q et al.

Plos One, 2015

Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border.

Li Q et al.

Plos One, 2015

Correction: Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border.

Li Q et al.

Plos One, 2015

Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by improved high-resolution DNA melting assay.

Pan M et al.

Molecular Biology Reports, 2013

Anemia in patients with coinherited thalassemia and glucose-6-phosphate dehydrogenase deficiency.

Pornprasert S et al.

Hemoglobin, 2013

Prevalence and distribution of glucose-6-phosphate dehydrogenase (G6PD) variants in Thai and Burmese populations in malaria endemic areas of Thailand.

Phompradit P et al.

Malaria Journal, 2011

Incidence and mutation analysis of glucose-6-phosphate dehydrogenase deficiency in eastern Indonesian populations.

Tantular IS et al.

Acta Medica Okayama, 2010

Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis.

Yan JB et al.

The Journal of Molecular Diagnostics : Jmd, 2010

[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity].

Qiu WJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar.

Nuchprayoon I et al.

Journal of Human Genetics, 2008

Glucose-6-phosphate dehydrogenase variants associated with favism in Thai children.

Laosombat V et al.

International Journal of Hematology, 2006

Rapid detection of glucose-6-phosphate dehydrogenase gene mutations by denaturing high-performance liquid chromatography.

Tseng CP et al.

Clinical Biochemistry, 2005

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind).

Laosombat V et al.

Blood Cells, Molecules & Diseases, 0

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