Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R463C
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G6PD

NM_001360016.2:p.R463C

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

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

Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.

Wang Z et al.

Annals of Hematology, 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

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

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 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

Etiology analysis for term newborns with severe hyperbilirubinemia in eastern Guangdong of China.

Xu JX et al.

World Journal of Clinical Cases, 2023

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

Li Z et al.

Human Genomics, 2023

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.

Manco L et al.

Acta Medica Portuguesa, 2023

Etiology analysis and G6PD deficiency for term infants with jaundice in Yangjiang of western Guangdong.

Yang YK et al.

Frontiers in Pediatrics, 2023

Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province.

Liang HF et al.

Frontiers in Genetics, 2023

Glucose-6-phosphate dehydrogenase deficiency screening and gene analysis in blood donors of Guangdong province.

Liang HF et al.

Hematology (amsterdam, Netherlands), 2022

Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.

Ren ZM et al.

Hemoglobin, 2022

Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia.

Rizo-delaTorre LDC et al.

Annals of Human 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

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

Wei H et al.

Frontiers in Genetics, 2022

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

Epidemiology, evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in Chinese populations.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 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 › gnomAD

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

Tong Y et al.

Bmc Medical Genetics, 2020

Molecular newborn screening of four genetic diseases in Guizhou Province of South China.

Huang S et al.

Gene, 2016

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

Peng Q et al.

Plos One, 2015

Glucose-6-phosphate dehydrogenase--beyond the realm of red cell biology.

Ho HY et al.

Free Radical Research, 2014

A reverse dot blot assay for the expanded screening of eleven Chinese G6PD mutations.

Lu X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

[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

[Identification of G6PD gene variants from Hakka population in Guangdong province].

Yu GL et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

[The preliminary study on the gene mutations of sixty patients with G6PD deficiency in Yunnan province].

Yang Z et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2000

Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan.

Hirono A et al.

Blood, 1997

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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."