Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.R437R
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H6PD

NM_004285.4:p.R437R

Associated Papers

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

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

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

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

38645242 (PubMed )
Supplement: NIHPP2024.04.12.24305393v1-supplement-3.pdf

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

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

Chamchoy K et al.

Plos One, 2023

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

Liang HF et al.

Frontiers in Genetics, 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

Cut-off values for diagnosis of G6PD deficiency by flow cytometry in Thai population.

Thedsawad A et al.

Annals of Hematology, 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

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

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

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

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

Donor glucose-6-phosphate dehydrogenase deficiency decreases blood quality for transfusion.

Francis RO et al.

The Journal of Clinical Investigation, 2020

The glucose-6-phosphate dehydrogenase Mahidol variant protects against uncomplicated Plasmodium vivax infection and reduces disease severity in a Kachin population from northeast Myanmar.

Yi H et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2019

Analysis of Glucose-6-Phosphate Dehydrogenase Genetic Polymorphism in the Hakka Population in Southern China.

Zhong Z et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018

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

Chen Y et al.

Medicine, 2018

Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency.

Sirdah MM et al.

Hematology (amsterdam, Netherlands), 2017

Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria.

Plewes K et al.

Malaria Journal, 2017

[Detection of gene mutation in glucose-6-phosphate dehydrogenase deficiency by RT-PCR sequencing].

Lyu RY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

Molecular Epidemiological Survey of Glucose-6-Phosphate Dehydrogenase Deficiency and Thalassemia in Uygur and Kazak Ethnic Groups in Xinjiang, Northwest China.

Han L et al.

Hemoglobin, 2016

A multiplex method for detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations.

Zhang L 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

Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border.

Li Q et al.

Plos One, 2015

Correction: Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border.

Li Q et al.

Plos One, 2015

A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan.

Jamornthanyawat N et al.

Plos One, 2014

Detection of 1311 polymorphism in the glucose-6-phosphate dehydrogenase gene by microarray technique.

Menziletoglu Yildiz S et al.

Archives of Medical Science : Ams, 2011

Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli.

Amini F et al.

Internal Medicine Journal, 2011

Prevalence and molecular characterization of Glucose-6-Phosphate dehydrogenase deficient variants among the Kurdish population of Northern Iraq.

Al-Allawi N et al.

Bmc Blood Disorders, 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

The prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase polymorphism C677T among G6PD deficient individuals from Western Iran.

Mozafari H et al.

Molecular Biology Reports, 2009

Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.

Moiz B et al.

Bmc Genetics, 2009

Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia.

Daoud BB et al.

Pathologie-biologie, 2008

Glucose-6-phosphate dehydrogenase variants associated with favism in Thai children.

Laosombat V et al.

International Journal of Hematology, 2006

Rapid, simultaneous genotyping of 10 Southeast Asian glucose-6-phosphate dehydrogenase deficiency-causing mutations and a silent polymorphism by multiplex primer extension/denaturing HPLC assay.

Wu G et al.

Clinical Chemistry, 2005

[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

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.

Cittadella R et al.

Annals of Human Genetics, 1997

Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii.

Hsia YE et al.

Human Genetics, 1993

[Biochemical study of glucose-6-phosphatase and glucose-6-phosphate dehydrogenase activities in the bovine cornea].

Jonadet M et al.

Pathologie Et Biologie, 1967

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind).

Laosombat V et al.

Blood Cells, Molecules & Diseases, 0

Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects.

Ko CH et al.

Blood Cells, Molecules & Diseases, 0

[Variations of glucose-6-phosphate dehydrogenase].

Boivin P et al.

Pathologie-biologie, 0

Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia.

Frigerio R et al.

Haematologica, 0

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