Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.N165D
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G6PD

NM_001360016.2:p.N165D

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

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

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

Jakhan J et al.

Acta Parasitologica, 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

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

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

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

Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review.

Sun B 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

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

Cell and Gene Therapy for Anemia: Hematopoietic Stem Cells and Gene Editing.

Anurogo D et al.

International Journal of Molecular Sciences, 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

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

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype-phenotype association throughout an activity distribution.

He Y et al.

Scientific Reports, 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

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

Tong Y et al.

Bmc Medical Genetics, 2020

Reference levels for glucose-6-phosphate dehydrogenase enzyme activity in infants 7-90 days old in Taiwan.

Yang WC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.

Islam MT et al.

Bmc Genetics, 2018

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

Chen Y et al.

Medicine, 2018

Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.

Yang H et al.

International Journal of Laboratory Hematology, 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

Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province.

Hu R et al.

International Journal of Clinical and Experimental Pathology, 2015

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

Pan M et al.

Molecular Biology Reports, 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

A novel G473A mutation in the glucose-6-phosphate dehydrogenase gene.

Chen X et al.

Pediatric Blood & Cancer, 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

Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.

Maciag M et al.

Acta Biochimica Polonica, 2007

Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations.

Yan T et al.

Haematologica, 2006

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

Tseng CP et al.

Clinical Biochemistry, 2005

G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population.

Louicharoen C et al.

Journal of Human Genetics, 2005

Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates.

Ainoon O et al.

The Malaysian Journal of Pathology, 2004

[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

Coinheritance of variant UDP-glucuronosyl transferase 1A1 gene and glucose-6-phosphate dehydrogenase deficiency in adults with hyperbilirubinemia.

Huang MJ et al.

Pharmacogenetics, 2002

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population.

Nuchprayoon I et al.

Human Mutation, 2002

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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."