Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.S188F
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G6PD

NM_001360016.2:p.S188F

Associated Papers

Bleomycin-induced lung fibrosis and dysfunction is exacerbated by G6PD deficiency.

Signoretti C et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 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

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

Tacoli C et al.

Scientific Reports, 2025

Evidence for G6PD variant classification from multiplexed functional assays.

Geck RC et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Karafin MS et al.

Biorxiv : the Preprint Server for Biology, 2025

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf

High prevalence of G6PD mutations in blood donors from the Brazilian Amazon region.

Silva JNV et al.

Blood Transfusion = Trasfusione Del Sangue, 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

G6PD deficiency is implicated in Circle of Willis variants in stroke patients and impairs brain vasculature in zebrafish.

Cai Y et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025

Human genetic variations conferring resistance to malaria.

Zhang X et al.

Journal of Translational Medicine, 2025

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2025

40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Other_rare_groups

Opportunities and Challenges of Population Pharmacogenomics.

Zhou Y et al.

Annals of Human Genetics, 2025

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.

Nahom D et al.

Familial Cancer, 2025

40779059 (PubMed )
Supplement: 10689_2025_489_MOESM1_ESM.pdf

Increased Exercise Tolerance in G6PD African Variant Mice Driven by Metabolic Adaptations and Erythrophagocytosis.

Cendali FI et al.

Antioxidants (basel, Switzerland), 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

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

High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.

Amaratunga SA et al.

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

Increased exercise tolerance in humanized G6PD-deficient mice.

Cendali FI et al.

Blood Advances, 2025

The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.

Cacabelos R et al.

Expert Opinion on Drug Metabolism & Toxicology, 2025

Molecular Mechanisms of Drug-Induced Hemolysis in G6PD Deficiency: Mechanistic Insights.

Paika S et al.

Oxidative Medicine and Cellular Longevity, 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 Deficiency Presenting as Atypical Hemolytic Uremic Syndrome: A Case Series and Literature Review.

Almasri G et al.

Case Reports in Nephrology, 2025

G6PD deficiency in Malaysia's Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study.

Zailani MAH et al.

Plos One, 2025

Lack of association between common polymorphisms associated with successful aging and longevity in the population of Sardinian Blue Zone.

Errigo A et al.

Scientific Reports, 2024

Medications and Acute Hemolysis in G6PD-Deficient Patients - A Real-World Study.

Gronich N et al.

Clinical Pharmacology and Therapeutics, 2024

Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.

Powell NR et al.

Genetics, 2024

Primaquine-5,6-Orthoquinone Is Directly Hemolytic to Older G6PD Deficient RBCs in a Humanized Mouse Model.

Dziewulska-Cronk KH et al.

The Journal of Pharmacology and Experimental Therapeutics, 2024

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

Jakhan J et al.

Acta Parasitologica, 2024

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1

Loss-of-function G6PD variant moderated high-fat diet-induced obesity, adipocyte hypertrophy, and fatty liver in male rats.

Matsumura S et al.

The Journal of Biological Chemistry, 2024

Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.

Iyer NS et al.

Molecular Genetics & Genomic Medicine, 2024

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

Võ TC et al.

Parasitology International, 2024

Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.

Powell NR et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.

Lin F et al.

The Journal of Molecular Diagnostics : Jmd, 2024

The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.

Xia Y et al.

F&s Reports, 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

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

Abouelhoda M et al.

Human Genetics, 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

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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."