Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.I48T
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G6PD

NM_001360016.2:p.I48T

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

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

Tacoli C et al.

Scientific Reports, 2025

Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.

Hodrob T et al.

Journal of Genetic Counseling, 2025

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

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

Whole Exome Sequencing for the Identification of Mutations in Bone Marrow CD34+Cells in Hodgkin Lymphoma.

Trang PTH et al.

Current Issues in Molecular Biology, 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

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

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

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Riedhammer KM et al.

Kidney International, 2024

38154558 (PubMed )
Supplement: mmc2.xlsx › Family_1

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

Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia.

Abouelhoda M et al.

Human Genetics, 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

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

Chamchoy K et al.

Plos One, 2023

Effect of neonatal reticulocytosis on glucose 6-phosphate dehydrogenase (G6PD) activity and G6PD deficiency detection: a cross-sectional study.

Pimpakan T et al.

Bmc Pediatrics, 2022

Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand.

Mungkalasut P et al.

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

Shen S et al.

Frontiers in Genetics, 2022

Genotype-phenotype association and biochemical analyses of glucose-6-phosphate dehydrogenase variants: Implications for the hemolytic risk of using 8-aminoquinolines for radical cure.

Sudsumrit S et al.

Frontiers in Pharmacology, 2022

Distribution of G6PD deficiency genotypes among Southeast Asian populations.

Tantular IS et al.

Tropical Medicine and Health, 2021

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.

Malik S et al.

Human Genomics, 2021

Glucose-6-Phosphate Dehydrogenase Deficiency: An Overview of the Prevalence and Genetic Variants in Saudi Arabia.

Hamali HA

Hemoglobin, 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

DALIA- a comprehensive resource of Disease Alleles in Arab population.

Vatsyayan A et al.

Plos One, 2021

Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency.

Boonyawat B et al.

Anemia, 2021

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

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

Tong Y et al.

Bmc Medical Genetics, 2020

Understanding the molecular interaction of human argonaute-2 and miR-20a complex: A molecular dynamics approach.

Mallick B et al.

Journal of Cellular Biochemistry, 2019

Evaluating the performance of automated UV enzymatic assay for screening of glucose 6-phosphate dehydrogenase deficiency.

Anantasomboon P et al.

International Journal of Laboratory Hematology, 2019

Genetics and genomic medicine in Tunisia.

Elloumi-Zghal H et al.

Molecular Genetics & Genomic Medicine, 2018

Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.

Luzzatto L et al.

The New England Journal of Medicine, 2018

Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province.

He M et al.

Human Heredity, 2018

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World.

Doss CG et al.

Scientific Reports, 2016

Fatal Primaquine-Induced Hemolysis in a Patient With Plasmodium vivax Malaria and G6PD A(-) Variant in the Brazilian Amazon.

Monteiro WM et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2016

Arab gene geography: From population diversities to personalized medical genomics.

Tadmouri GO et al.

Global Cardiology Science & Practice, 2014

Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.

Benmansour I et al.

Blood Cells, Molecules & Diseases, 2013

Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity.

Dallol A et al.

Journal of Translational Medicine, 2012

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq.

Al-Musawi BM et al.

Bmc Blood Disorders, 2012

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia.

Al-Jaouni SK et al.

Bmc Research Notes, 2011

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