Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.L128P
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G6PD

NM_001360016.2:p.L128P

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

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

Tacoli C et al.

Scientific Reports, 2025

41423656 (PubMed )
Supplement: 41598_2025_31822_MOESM3_ESM.xlsx › Sheet1

Human genetic variations conferring resistance to malaria.

Zhang X et al.

Journal of Translational Medicine, 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

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

40666837 (PubMed )
Supplement: media-2.xlsx › Sheet1

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

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

Võ TC et al.

Parasitology International, 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

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

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

Nannelli C et al.

British Journal of Haematology, 2023

An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population.

Hernández-Ochoa B et al.

International Journal of Molecular Sciences, 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

Performance of a Commercial Multiplex Allele-Specific Polymerase Chain Reaction Kit to Genotype African-Type Glucose-6-Phosphate Dehydrogenase Deficiency.

Djigo OKM et al.

The American Journal of Tropical Medicine and Hygiene, 2023

Cytochrome P450 2D6 (CYP2D6) and glucose-6-phosphate dehydrogenase (G6PD) genetic variations in Thai vivax malaria patients: Implications for 8-aminoquinoline radical cure.

Chamchoy K et al.

Plos Neglected Tropical Diseases, 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

Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Zhou Y et al.

Human Genetics, 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

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

Distribution of G6PD deficiency genotypes among Southeast Asian populations.

Tantular IS et al.

Tropical Medicine and Health, 2021

The Thai reference exome (T-REx) variant database.

Shotelersuk V et al.

Clinical Genetics, 2021

Molecular genotyping of G6PD mutations for neonates in Ningbo area.

Pan J et al.

Journal of Clinical Laboratory Analysis, 2021

A Profile of Glucose-6-Phosphate Dehydrogenase Variants and Deficiency of Multicultural Families in Korea.

Bahk YY et al.

The Korean Journal of Parasitology, 2021

Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand.

Sathupak S et al.

Scientific Reports, 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

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 › ClinVar

Investigation of glucose-6-phosphate dehydrogenase (G6PD) deficiency prevalence in a Plasmodium vivax-endemic area in the Republic of Korea (ROK).

Lee W et al.

Malaria Journal, 2020

A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.

Tong Y et al.

Bmc Medical Genetics, 2020

Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation.

Alina MF et al.

Journal of Human Genetics, 2020

G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population.

Wisnumurti DA et al.

Bmc Pediatrics, 2019

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Canda E et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

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

Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan.

Gómez-Manzo S et al.

International Journal of Molecular Sciences, 2016

Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals.

Sarker SK et al.

Plos One, 2016

G6PD deficiency in Latin America: systematic review on prevalence and variants.

Monteiro WM et al.

Memorias Do Instituto Oswaldo Cruz, 2014

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